Linked Data
ClinVar Variation Id:
136043
dbSNP Id:
rs147494981
ExAC:
8:90949268 A / G
gnomAD v2:
8-90949268-A-G
gnomAD v3:
8-89937040-A-G
gnomAD v4:
8-89937040-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89937040A>G , CM000670.2:g.89937040A>G | GRCh38 |
| NC_000008.10:g.90949268A>G , CM000670.1:g.90949268A>G | GRCh37 |
| NC_000008.9:g.91018444A>G | NCBI36 |
| NG_008860.1:g.52632T>C , LRG_158:g.52632T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474821.2:n.3640T>C | ||
| ENST00000494804.2:n.3522T>C | ||
| ENST00000517337.2:c.1974T>C | ENSP00000429971.2:p.Ala658= | |
| ENST00000523444.2:c.1974T>C | ENSP00000428252.2:p.Ala658= | |
| ENST00000697292.1:c.2220T>C | ENSP00000513229.1:p.Ala740= | |
| ENST00000697293.1:c.2271T>C | ENSP00000513230.1:p.Ala757= | |
| ENST00000697294.1:c.*1831T>C | ENSP00000513231.1:n.*1831T>C | |
| ENST00000697295.1:c.*1529T>C | ENSP00000513232.1:n.*1529T>C | |
| ENST00000697296.1:c.*1888T>C | ENSP00000513233.1:n.*1888T>C | |
| ENST00000697297.1:n.4005T>C | ||
| ENST00000697298.1:c.1974T>C | ENSP00000513234.1:p.Ala658= | |
| ENST00000697299.1:c.1974T>C | ENSP00000513235.1:p.Ala658= | |
| ENST00000697300.1:c.*1824T>C | ENSP00000513236.1:n.*1824T>C | |
| ENST00000697301.1:c.*1741T>C | ENSP00000513237.1:n.*1741T>C | |
| ENST00000697302.1:c.*1741T>C | ENSP00000513238.1:n.*1741T>C | |
| ENST00000697303.1:c.*1824T>C | ENSP00000513239.1:n.*1824T>C | |
| ENST00000697304.1:c.1908T>C | ENSP00000513240.1:p.Ala636= | |
| ENST00000697305.1:n.2487T>C | ||
| ENST00000697306.1:c.*2771T>C | ENSP00000513241.1:n.*2771T>C | |
| ENST00000697307.1:c.1995T>C | ENSP00000513242.1:p.Ala665= | |
| ENST00000697308.1:c.2151T>C | ENSP00000513243.1:p.Ala717= | |
| ENST00000697309.1:c.2185-1428T>C | ENSP00000513244.1:n.2185-1428T>C | |
| ENST00000697310.1:c.2220T>C | ENSP00000513245.1:p.Ala740= | |
| ENST00000697311.1:c.*485T>C | ENSP00000513246.1:n.*485T>C | |
| ENST00000697312.1:c.*1673T>C | ENSP00000513247.1:n.*1673T>C | |
| ENST00000697313.1:n.2688-1428T>C | ||
| ENST00000697314.1:n.3637-1428T>C | ||
| ENST00000697315.1:c.*124T>C | ENSP00000513248.1:n.*124T>C | |
| ENST00000697316.1:n.2341T>C | ||
| ENST00000265433.8:c.2220T>C MANE Select | ENSP00000265433.4:p.Ala740= | |
| ENST00000265433.7:c.2220T>C | ENSP00000265433.3:p.Ala740= | |
| ENST00000396252.6:c.*2093T>C | ENSP00000379551.2:n.*2093T>C | |
| ENST00000409330.5:c.1974T>C | ENSP00000386924.1:p.Ala658= | |
| ENST00000474821.1:n.308T>C | ||
| ENST00000613033.1:c.330T>C | ENSP00000484487.1:p.Ala110= | |
| NM_001024688.2:c.1974T>C | NP_001019859.1:p.Ala658= | |
| NM_002485.4:c.2220T>C , LRG_158t1:c.2220T>C | NP_002476.2:p.Ala740= | |
| XM_011517044.1:c.2196T>C | XP_011515346.1:p.Ala732= | |
| XM_011517045.1:c.1974T>C | XP_011515347.1:p.Ala658= | |
| XM_017013460.1:c.1341T>C | XP_016868949.1:p.Ala447= | |
| XM_017013462.2:c.1341T>C | XP_016868951.1:p.Ala447= | |
| XM_024447163.1:c.1974T>C | XP_024302931.1:p.Ala658= | |
| XM_024447164.1:c.1974T>C | XP_024302932.1:p.Ala658= | |
| XM_024447165.1:c.1341T>C | XP_024302933.1:p.Ala447= | |
| NM_002485.5:c.2220T>C MANE Select | NP_002476.2:p.Ala740= | |
| NM_001024688.3:c.1974T>C | NP_001019859.1:p.Ala658= |