Linked Data
dbSNP Id:
rs763262266
ExAC:
9:94794697 A / G
gnomAD v2:
9-94794697-A-G
gnomAD v4:
9-92032415-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92032415A>G , CM000671.2:g.92032415A>G | GRCh38 |
| NC_000009.11:g.94794697A>G , CM000671.1:g.94794697A>G | GRCh37 |
| NC_000009.10:g.93834518A>G | NCBI36 |
| NG_007950.1:g.87994T>C , LRG_272:g.87994T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686600.1:c.*184T>C | ENSP00000509268.1:n.*184T>C | |
| ENST00000686799.1:n.1796T>C | ||
| ENST00000687427.1:c.*228T>C | ENSP00000509426.1:n.*228T>C | |
| ENST00000687817.1:c.*3870T>C | ENSP00000508926.1:n.*3870T>C | |
| ENST00000687972.1:c.*50T>C | ENSP00000509208.1:n.*50T>C | |
| ENST00000689261.1:n.1379T>C | ||
| ENST00000689401.1:c.*1722T>C | ENSP00000510251.1:n.*1722T>C | |
| ENST00000690095.1:n.1860T>C | ||
| ENST00000690139.1:c.*1173T>C | ENSP00000510483.1:n.*1173T>C | |
| ENST00000692458.1:n.2110T>C | ||
| ENST00000262554.7:c.*50T>C MANE Select | ENSP00000262554.2:n.*50T>C | |
| ENST00000642671.1:c.1629+2395T>C | ENSP00000495764.1:n.1629+2395T>C | |
| ENST00000643599.1:c.1396+2395T>C | ENSP00000494770.1:n.1396+2395T>C | |
| ENST00000644140.1:c.*1213T>C | ENSP00000493933.1:n.*1213T>C | |
| ENST00000646481.1:c.1260+2395T>C | ENSP00000496627.1:n.1260+2395T>C | |
| ENST00000646534.1:c.*1275T>C | ENSP00000495388.1:n.*1275T>C | |
| ENST00000262554.6:c.*50T>C | ENSP00000262554.2:n.*50T>C | |
| ENST00000469778.1:n.429T>C | ||
| NM_001281303.1:c.1440T>C | NP_001268232.1:p.Thr480= | |
| NM_006415.3:c.*50T>C | NP_006406.1:n.*50T>C | |
| XM_011518139.1:c.*50T>C | XP_011516441.1:n.*50T>C | |
| XM_011518139.3:c.*50T>C | XP_011516441.1:n.*50T>C | |
| XM_017014200.2:c.*50T>C | XP_016869689.1:n.*50T>C | |
| XM_017014201.2:c.*50T>C | XP_016869690.1:n.*50T>C | |
| XM_024447378.1:c.*50T>C | XP_024303146.1:n.*50T>C | |
| XM_024447379.1:c.*50T>C | XP_024303147.1:n.*50T>C | |
| XR_002956744.1:n.1622T>C | ||
| NM_006415.4:c.*50T>C MANE Select | NP_006406.1:n.*50T>C | |
| NM_001281303.2:c.1440T>C | NP_001268232.1:p.Thr480= | |
| NM_001368272.1:c.*50T>C | NP_001355201.1:n.*50T>C | |
| NM_001368273.1:c.*50T>C | NP_001355202.1:n.*50T>C |