Linked Data
ClinVar Variation Id:
297472
dbSNP Id:
rs587781284
ExAC:
1:45800197 A / T
gnomAD v2:
1-45800197-A-T
gnomAD v3:
1-45334525-A-T
gnomAD v4:
1-45334525-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45334525A>T , CM000663.2:g.45334525A>T | GRCh38 |
| NC_000001.10:g.45800197A>T , CM000663.1:g.45800197A>T | GRCh37 |
| NC_000001.9:g.45572784A>T | NCBI36 |
| NG_008189.1:g.10946T>A , LRG_220:g.10946T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.37-1691T>A | ENSP00000410263.2:n.37-1691T>A | |
| ENST00000435155.2:c.-6-14T>A | ENSP00000403655.2:n.-6-14T>A | |
| ENST00000467459.6:c.-6-14T>A | ENSP00000435889.2:n.-6-14T>A | |
| ENST00000483127.2:c.13-14T>A | ENSP00000436469.2:n.13-14T>A | |
| ENST00000485271.6:c.-6-14T>A | ENSP00000431264.2:n.-6-14T>A | |
| ENST00000529892.6:c.37-14T>A | ENSP00000432528.2:n.37-14T>A | |
| ENST00000672314.2:c.-6-14T>A | ENSP00000500828.2:n.-6-14T>A | |
| ENST00000710952.2:c.37-14T>A MANE Plus Clinical | ENSP00000518552.2:n.37-14T>A | |
| ENST00000672818.3:c.37-14T>A | ENSP00000500891.1:n.37-14T>A | |
| ENST00000450313.6:c.37-14T>A | ENSP00000408176.2:n.37-14T>A | |
| ENST00000456914.7:c.-6-14T>A MANE Select | ENSP00000407590.2:n.-6-14T>A | |
| ENST00000461495.6:c.37-14T>A | ENSP00000437166.1:n.37-14T>A | |
| ENST00000671856.1:n.15-14T>A | ||
| ENST00000671898.1:c.541-14T>A | ENSP00000499896.1:n.541-14T>A | |
| ENST00000672011.1:c.37-14T>A | ENSP00000500418.1:n.37-14T>A | |
| ENST00000672314.1:c.-6-14T>A | ENSP00000500828.1:n.-6-14T>A | |
| ENST00000672593.1:c.-6-14T>A | ENSP00000500455.1:n.-6-14T>A | |
| ENST00000672764.1:c.-6-14T>A | ENSP00000500886.1:n.-6-14T>A | |
| ENST00000672818.2:c.37-14T>A | ENSP00000500891.1:n.37-14T>A | |
| ENST00000673134.1:c.-6-14T>A | ENSP00000500526.1:n.-6-14T>A | |
| ENST00000354383.10:c.-6-14T>A | ENSP00000346354.6:n.-6-14T>A | |
| ENST00000355498.6:c.-6-14T>A | ENSP00000347685.2:n.-6-14T>A | |
| ENST00000372098.7:c.37-14T>A | ENSP00000361170.3:n.37-14T>A | |
| ENST00000372104.5:c.-6-14T>A | ENSP00000361176.1:n.-6-14T>A | |
| ENST00000372110.7:c.37-14T>A | ENSP00000361182.3:n.37-14T>A | |
| ENST00000372115.7:c.37-14T>A | ENSP00000361187.3:n.37-14T>A | |
| ENST00000412971.5:c.37-1691T>A | ENSP00000410263.1:n.37-1691T>A | |
| ENST00000435155.1:c.-6-14T>A | ENSP00000403655.1:n.-6-14T>A | |
| ENST00000448481.5:c.-6-14T>A | ENSP00000409718.1:n.-6-14T>A | |
| ENST00000450313.5:c.37-14T>A | ENSP00000408176.1:n.37-14T>A | |
| ENST00000456914.6:c.-6-14T>A | ENSP00000407590.2:n.-6-14T>A | |
| ENST00000461495.5:c.37-14T>A | ENSP00000437166.1:n.37-14T>A | |
| ENST00000462387.5:n.215-14T>A | ||
| ENST00000467940.5:c.53-14T>A | ENSP00000436478.1:n.53-14T>A | |
| ENST00000470256.5:c.-6-14T>A | ENSP00000434985.1:n.-6-14T>A | |
| ENST00000474703.1:n.117-14T>A | ||
| ENST00000475516.5:c.-6-14T>A | ENSP00000433843.1:n.-6-14T>A | |
| ENST00000476789.5:n.215-14T>A | ||
| ENST00000479746.6:n.58-14T>A | ||
| ENST00000481139.5:n.198-14T>A | ||
| ENST00000481571.5:c.37-14T>A | ENSP00000436597.1:n.37-14T>A | |
| ENST00000483127.1:c.13-14T>A | ENSP00000436469.1:n.13-14T>A | |
| ENST00000483642.5:n.176-14T>A | ||
| ENST00000485484.5:n.45-14T>A | ||
| ENST00000488731.6:c.-6-14T>A | ENSP00000432330.1:n.-6-14T>A | |
| ENST00000492494.5:n.58-14T>A | ||
| ENST00000525160.5:c.37-14T>A | ENSP00000431568.1:n.37-14T>A | |
| ENST00000528013.6:c.-6-14T>A | ENSP00000433130.2:n.-6-14T>A | |
| ENST00000529984.5:c.-6-14T>A | ENSP00000437093.1:n.-6-14T>A | |
| ENST00000531105.5:c.-6-14T>A | ENSP00000431292.1:n.-6-14T>A | |
| ENST00000534453.1:n.261-14T>A | ||
| NM_001048171.1:c.37-14T>A | NP_001041636.1:n.37-14T>A | |
| NM_001048172.1:c.-6-14T>A | NP_001041637.1:n.-6-14T>A | |
| NM_001048173.1:c.-6-14T>A | NP_001041638.1:n.-6-14T>A | |
| NM_001048174.1:c.-6-14T>A | NP_001041639.1:n.-6-14T>A | |
| NM_001128425.1:c.37-14T>A , LRG_220t1:c.37-14T>A | NP_001121897.1:n.37-14T>A | |
| NM_001293190.1:c.37-14T>A | NP_001280119.1:n.37-14T>A | |
| NM_001293191.1:c.-6-14T>A | NP_001280120.1:n.-6-14T>A | |
| NM_001293192.1:c.-218-14T>A | NP_001280121.1:n.-218-14T>A | |
| NM_001293195.1:c.-6-14T>A | NP_001280124.1:n.-6-14T>A | |
| NM_001293196.1:c.-218-14T>A | NP_001280125.1:n.-218-14T>A | |
| NM_012222.2:c.37-14T>A | NP_036354.1:n.37-14T>A | |
| XM_011541497.1:c.13-14T>A | XP_011539799.1:n.13-14T>A | |
| XM_011541498.1:c.-6-14T>A | XP_011539800.1:n.-6-14T>A | |
| XM_011541499.1:c.-6-14T>A | XP_011539801.1:n.-6-14T>A | |
| XM_011541500.1:c.-6-14T>A | XP_011539802.1:n.-6-14T>A | |
| XM_011541501.1:c.-6-14T>A | XP_011539803.1:n.-6-14T>A | |
| XM_011541502.1:c.-6-14T>A | XP_011539804.1:n.-6-14T>A | |
| XM_011541503.1:c.37-14T>A | XP_011539805.1:n.37-14T>A | |
| XM_011541504.1:c.-6-14T>A | XP_011539806.1:n.-6-14T>A | |
| XM_011541505.1:c.-79-14T>A | XP_011539807.1:n.-79-14T>A | |
| XM_011541506.1:c.-79-14T>A | XP_011539808.1:n.-79-14T>A | |
| XR_946658.1:n.84-14T>A | ||
| NM_001350650.1:c.-277-14T>A | NP_001337579.1:n.-277-14T>A | |
| NM_001350651.1:c.-213-14T>A | NP_001337580.1:n.-213-14T>A | |
| NR_146882.1:n.253-14T>A | ||
| NR_146883.1:n.141-14T>A | ||
| XM_011541497.3:c.13-14T>A | XP_011539799.1:n.13-14T>A | |
| XM_011541500.3:c.-6-14T>A | XP_011539802.1:n.-6-14T>A | |
| XM_011541501.2:c.-6-14T>A | XP_011539803.1:n.-6-14T>A | |
| XM_011541502.2:c.-6-14T>A | XP_011539804.1:n.-6-14T>A | |
| XM_011541503.2:c.37-14T>A | XP_011539805.1:n.37-14T>A | |
| XM_011541504.2:c.-6-14T>A | XP_011539806.1:n.-6-14T>A | |
| XM_011541505.2:c.-79-14T>A | XP_011539807.1:n.-79-14T>A | |
| XM_011541506.2:c.-79-14T>A | XP_011539808.1:n.-79-14T>A | |
| XM_017001331.1:c.-6-14T>A | XP_016856820.1:n.-6-14T>A | |
| XM_017001332.1:c.-6-14T>A | XP_016856821.1:n.-6-14T>A | |
| XM_017001333.1:c.-6-14T>A | XP_016856822.1:n.-6-14T>A | |
| XM_017001334.1:c.-6-14T>A | XP_016856823.1:n.-6-14T>A | |
| XM_017001335.1:c.-218-14T>A | XP_016856824.1:n.-218-14T>A | |
| XM_017001336.1:c.-310-14T>A | XP_016856825.1:n.-310-14T>A | |
| XM_017001337.1:c.-310-14T>A | XP_016856826.1:n.-310-14T>A | |
| XM_024447244.1:c.-319-14T>A | XP_024303012.1:n.-319-14T>A | |
| XM_024447245.1:c.-280-14T>A | XP_024303013.1:n.-280-14T>A | |
| XM_024447248.1:c.-277-14T>A | XP_024303016.1:n.-277-14T>A | |
| XM_024447249.1:c.-773-14T>A | XP_024303017.1:n.-773-14T>A | |
| XM_024447250.1:c.-776-14T>A | XP_024303018.1:n.-776-14T>A | |
| XM_024447251.1:c.-467-14T>A | XP_024303019.1:n.-467-14T>A | |
| XR_001737190.1:n.104-14T>A | ||
| XR_001737192.1:n.32-14T>A | ||
| XR_002956643.1:n.212-14T>A | ||
| XR_002956644.1:n.230-14T>A | ||
| XR_946658.2:n.98-14T>A | ||
| NM_001048171.2:c.-6-14T>A | NP_001041636.2:n.-6-14T>A | |
| NM_001128425.2:c.37-14T>A MANE Plus Clinical | NP_001121897.1:n.37-14T>A | |
| NM_001048172.2:c.-6-14T>A | NP_001041637.1:n.-6-14T>A | |
| NM_001048173.2:c.-6-14T>A | NP_001041638.1:n.-6-14T>A | |
| NM_001048174.2:c.-6-14T>A MANE Select | NP_001041639.1:n.-6-14T>A | |
| NM_001293190.2:c.37-14T>A | NP_001280119.1:n.37-14T>A | |
| NM_001293191.2:c.-6-14T>A | NP_001280120.1:n.-6-14T>A | |
| NM_001293192.2:c.-218-14T>A | NP_001280121.1:n.-218-14T>A | |
| NM_001293195.2:c.-6-14T>A | NP_001280124.1:n.-6-14T>A | |
| NM_001293196.2:c.-218-14T>A | NP_001280125.1:n.-218-14T>A | |
| NM_001350650.2:c.-277-14T>A | NP_001337579.1:n.-277-14T>A | |
| NM_001350651.2:c.-213-14T>A | NP_001337580.1:n.-213-14T>A | |
| NM_012222.3:c.37-14T>A | NP_036354.1:n.37-14T>A | |
| NR_146882.2:n.223-14T>A | ||
| NR_146883.2:n.146-14T>A |