SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
ClinVar Variation Id:
801228
dbSNP Id:
rs1306473047
gnomAD v3:
1-45332818-C-T
gnomAD v4:
1-45332818-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45332818C>T , CM000663.2:g.45332818C>T | GRCh38 |
| NC_000001.10:g.45798490C>T , CM000663.1:g.45798490C>T | GRCh37 |
| NC_000001.9:g.45571077C>T | NCBI36 |
| NG_008189.1:g.12653G>A , LRG_220:g.12653G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.53G>A | ENSP00000410263.2:p.Trp18Ter | |
| ENST00000435155.2:c.470G>A | ENSP00000403655.2:p.Trp157Ter | |
| ENST00000467459.6:c.437G>A | ENSP00000435889.2:p.Trp146Ter | |
| ENST00000483127.2:c.455G>A | ENSP00000436469.2:p.Trp152Ter | |
| ENST00000485271.6:c.437G>A | ENSP00000431264.2:p.Trp146Ter | |
| ENST00000529892.6:c.479G>A | ENSP00000432528.2:p.Trp160Ter | |
| ENST00000533178.6:c.116-131G>A | ENSP00000436430.2:n.116-131G>A | |
| ENST00000672314.2:c.437G>A | ENSP00000500828.2:p.Trp146Ter | |
| ENST00000674679.2:c.*349G>A | ENSP00000501623.2:n.*349G>A | |
| ENST00000710952.2:c.521G>A MANE Plus Clinical | ENSP00000518552.2:p.Trp174Ter | |
| ENST00000672818.3:c.512G>A | ENSP00000500891.1:p.Trp171Ter | |
| ENST00000450313.6:c.447G>A | ENSP00000408176.2:p.Leu149= | |
| ENST00000456914.7:c.437G>A MANE Select | ENSP00000407590.2:p.Trp146Ter | |
| ENST00000461495.6:c.*176G>A | ENSP00000437166.1:n.*176G>A | |
| ENST00000671856.1:n.383G>A | ||
| ENST00000671898.1:c.1025G>A | ENSP00000499896.1:p.Trp342Ter | |
| ENST00000672011.1:c.405G>A | ENSP00000500418.1:p.Leu135= | |
| ENST00000672314.1:c.437G>A | ENSP00000500828.1:p.Trp146Ter | |
| ENST00000672593.1:c.*250G>A | ENSP00000500455.1:n.*250G>A | |
| ENST00000672764.1:c.396G>A | ENSP00000500886.1:p.Leu132= | |
| ENST00000672818.2:c.512G>A | ENSP00000500891.1:p.Trp171Ter | |
| ENST00000673134.1:c.*134G>A | ENSP00000500526.1:n.*134G>A | |
| ENST00000674679.1:c.465G>A | ENSP00000501623.1:n.465G>A | |
| ENST00000354383.10:c.440G>A | ENSP00000346354.6:p.Trp147Ter | |
| ENST00000355498.6:c.437G>A | ENSP00000347685.2:p.Trp146Ter | |
| ENST00000372098.7:c.512G>A | ENSP00000361170.3:p.Trp171Ter | |
| ENST00000372104.5:c.437G>A | ENSP00000361176.1:p.Trp146Ter | |
| ENST00000372110.7:c.482G>A | ENSP00000361182.3:p.Trp161Ter | |
| ENST00000372115.7:c.479G>A | ENSP00000361187.3:p.Trp160Ter | |
| ENST00000412971.5:c.53G>A | ENSP00000410263.1:p.Trp18Ter | |
| ENST00000435155.1:c.470G>A | ENSP00000403655.1:p.Trp157Ter | |
| ENST00000448481.5:c.470G>A | ENSP00000409718.1:p.Trp157Ter | |
| ENST00000450313.5:c.521G>A | ENSP00000408176.1:p.Trp174Ter | |
| ENST00000456914.6:c.437G>A | ENSP00000407590.2:p.Trp146Ter | |
| ENST00000461495.5:c.*176G>A | ENSP00000437166.1:n.*176G>A | |
| ENST00000462388.5:n.128G>A | ||
| ENST00000467940.5:c.*360G>A | ENSP00000436478.1:n.*360G>A | |
| ENST00000470256.5:c.324G>A | ENSP00000434985.1:p.Leu108= | |
| ENST00000475516.5:c.*250G>A | ENSP00000433843.1:n.*250G>A | |
| ENST00000476789.5:n.877G>A | ||
| ENST00000478796.5:n.424G>A | ||
| ENST00000479746.6:n.720G>A | ||
| ENST00000481139.5:n.910G>A | ||
| ENST00000481571.5:c.*250G>A | ENSP00000436597.1:n.*250G>A | |
| ENST00000483642.5:n.952G>A | ||
| ENST00000485484.5:n.738G>A | ||
| ENST00000488731.6:c.132G>A | ENSP00000432330.1:p.Leu44= | |
| ENST00000492494.5:n.834G>A | ||
| ENST00000525160.5:c.*88G>A | ENSP00000431568.1:n.*88G>A | |
| ENST00000528013.6:c.479G>A | ENSP00000433130.2:p.Trp160Ter | |
| ENST00000529984.5:c.132G>A | ENSP00000437093.1:p.Leu44= | |
| ENST00000531105.5:c.115+1573G>A | ENSP00000431292.1:n.115+1573G>A | |
| ENST00000533178.5:c.122-131G>A | ENSP00000436430.1:n.122-131G>A | |
| NM_001048171.1:c.479G>A | NP_001041636.1:p.Trp160Ter | |
| NM_001048172.1:c.440G>A | NP_001041637.1:p.Trp147Ter | |
| NM_001048173.1:c.437G>A | NP_001041638.1:p.Trp146Ter | |
| NM_001048174.1:c.437G>A | NP_001041639.1:p.Trp146Ter | |
| NM_001128425.1:c.521G>A , LRG_220t1:c.521G>A | NP_001121897.1:p.Trp174Ter | |
| NM_001293190.1:c.482G>A | NP_001280119.1:p.Trp161Ter | |
| NM_001293191.1:c.470G>A | NP_001280120.1:p.Trp157Ter | |
| NM_001293192.1:c.161G>A | NP_001280121.1:p.Trp54Ter | |
| NM_001293195.1:c.437G>A | NP_001280124.1:p.Trp146Ter | |
| NM_001293196.1:c.161G>A | NP_001280125.1:p.Trp54Ter | |
| NM_012222.2:c.512G>A | NP_036354.1:p.Trp171Ter | |
| XM_011541497.1:c.497G>A | XP_011539799.1:p.Trp166Ter | |
| XM_011541498.1:c.479G>A | XP_011539800.1:p.Trp160Ter | |
| XM_011541499.1:c.479G>A | XP_011539801.1:p.Trp160Ter | |
| XM_011541500.1:c.479G>A | XP_011539802.1:p.Trp160Ter | |
| XM_011541501.1:c.479G>A | XP_011539803.1:p.Trp160Ter | |
| XM_011541502.1:c.479G>A | XP_011539804.1:p.Trp160Ter | |
| XM_011541503.1:c.479G>A | XP_011539805.1:p.Trp160Ter | |
| XM_011541504.1:c.470G>A | XP_011539806.1:p.Trp157Ter | |
| XM_011541505.1:c.59G>A | XP_011539807.1:p.Trp20Ter | |
| XM_011541506.1:c.59G>A | XP_011539808.1:p.Trp20Ter | |
| XM_011541507.1:c.50G>A | XP_011539809.1:p.Trp17Ter | |
| XM_011541508.1:c.65G>A | XP_011539810.1:p.Trp22Ter | |
| XR_946658.1:n.568G>A | ||
| NM_001350650.1:c.92G>A | NP_001337579.1:p.Trp31Ter | |
| NM_001350651.1:c.92G>A | NP_001337580.1:p.Trp31Ter | |
| NR_146882.1:n.695G>A | ||
| NR_146883.1:n.509G>A | ||
| XM_011541497.3:c.497G>A | XP_011539799.1:p.Trp166Ter | |
| XM_011541500.3:c.479G>A | XP_011539802.1:p.Trp160Ter | |
| XM_011541501.2:c.479G>A | XP_011539803.1:p.Trp160Ter | |
| XM_011541502.2:c.479G>A | XP_011539804.1:p.Trp160Ter | |
| XM_011541503.2:c.479G>A | XP_011539805.1:p.Trp160Ter | |
| XM_011541504.2:c.470G>A | XP_011539806.1:p.Trp157Ter | |
| XM_011541505.2:c.59G>A | XP_011539807.1:p.Trp20Ter | |
| XM_011541506.2:c.59G>A | XP_011539808.1:p.Trp20Ter | |
| XM_017001331.1:c.479G>A | XP_016856820.1:p.Trp160Ter | |
| XM_017001332.1:c.479G>A | XP_016856821.1:p.Trp160Ter | |
| XM_017001333.1:c.479G>A | XP_016856822.1:p.Trp160Ter | |
| XM_017001334.1:c.440G>A | XP_016856823.1:p.Trp147Ter | |
| XM_017001335.1:c.161G>A | XP_016856824.1:p.Trp54Ter | |
| XM_017001336.1:c.92G>A | XP_016856825.1:p.Trp31Ter | |
| XM_017001337.1:c.92G>A | XP_016856826.1:p.Trp31Ter | |
| XM_024447244.1:c.92G>A | XP_024303012.1:p.Trp31Ter | |
| XM_024447245.1:c.92G>A | XP_024303013.1:p.Trp31Ter | |
| XM_024447248.1:c.50G>A | XP_024303016.1:p.Trp17Ter | |
| XM_024447249.1:c.-80G>A | XP_024303017.1:n.-80G>A | |
| XM_024447250.1:c.-80G>A | XP_024303018.1:n.-80G>A | |
| XM_024447251.1:c.-80G>A | XP_024303019.1:n.-80G>A | |
| XR_001737190.1:n.482G>A | ||
| XR_001737192.1:n.294G>A | ||
| XR_002956643.1:n.474G>A | ||
| XR_002956644.1:n.1009G>A | ||
| XR_946658.2:n.582G>A | ||
| NM_001048171.2:c.437G>A | NP_001041636.2:p.Trp146Ter | |
| NM_001128425.2:c.521G>A MANE Plus Clinical | NP_001121897.1:p.Trp174Ter | |
| NM_001048172.2:c.440G>A | NP_001041637.1:p.Trp147Ter | |
| NM_001048173.2:c.437G>A | NP_001041638.1:p.Trp146Ter | |
| NM_001048174.2:c.437G>A MANE Select | NP_001041639.1:p.Trp146Ter | |
| NM_001293190.2:c.482G>A | NP_001280119.1:p.Trp161Ter | |
| NM_001293191.2:c.470G>A | NP_001280120.1:p.Trp157Ter | |
| NM_001293192.2:c.161G>A | NP_001280121.1:p.Trp54Ter | |
| NM_001293195.2:c.437G>A | NP_001280124.1:p.Trp146Ter | |
| NM_001293196.2:c.161G>A | NP_001280125.1:p.Trp54Ter | |
| NM_001350650.2:c.92G>A | NP_001337579.1:p.Trp31Ter | |
| NM_001350651.2:c.92G>A | NP_001337580.1:p.Trp31Ter | |
| NM_012222.3:c.512G>A | NP_036354.1:p.Trp171Ter | |
| NR_146882.2:n.665G>A | ||
| NR_146883.2:n.514G>A |