Linked Data
dbSNP Id:
rs771932669
ExAC:
1:47398439 C / A
gnomAD v2:
1-47398439-C-A
gnomAD v4:
1-46932767-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46932767C>A , CM000663.2:g.46932767C>A | GRCh38 |
| NC_000001.10:g.47398439C>A , CM000663.1:g.47398439C>A | GRCh37 |
| NC_000001.9:g.47171026C>A | NCBI36 |
| NG_007932.1:g.13718G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310638.9:c.1358G>T MANE Select | ENSP00000311095.4:p.Gly453Val | |
| ENST00000310638.8:c.1358G>T | ENSP00000311095.4:p.Gly453Val | |
| ENST00000371904.8:c.1361G>T | ENSP00000360971.4:p.Gly454Val | |
| ENST00000371905.1:c.1358G>T | ENSP00000360972.1:p.Gly453Val | |
| ENST00000462347.5:c.1064G>T | ENSP00000477495.1:p.Gly355Val | |
| ENST00000465874.5:c.*156G>T | ENSP00000476368.1:n.*156G>T | |
| ENST00000468629.5:c.*63G>T | ENSP00000476619.1:n.*63G>T | |
| ENST00000474458.5:c.*63G>T | ENSP00000476988.1:n.*63G>T | |
| ENST00000475477.5:c.*152G>T | ENSP00000476854.1:n.*152G>T | |
| NM_000778.3:c.1358G>T | NP_000769.2:p.Gly453Val | |
| XM_005270539.1:c.1064G>T | XP_005270596.1:p.Gly355Val | |
| XM_011540826.1:c.1376G>T | XP_011539128.1:p.Gly459Val | |
| XM_011540827.1:c.1082G>T | XP_011539129.1:p.Gly361Val | |
| XM_011540828.1:c.1064G>T | XP_011539130.1:p.Gly355Val | |
| XR_246241.1:n.1262G>T | ||
| XR_246242.1:n.1246G>T | ||
| NM_001319155.1:c.1262G>T | NP_001306084.1:p.Gly421Val | |
| NM_001363587.1:c.1064G>T | NP_001350516.1:p.Gly355Val | |
| NR_134988.1:n.1063G>T | ||
| NR_134989.1:n.1254G>T | ||
| NR_134990.1:n.1248G>T | ||
| NR_134991.1:n.1235G>T | ||
| NR_134992.1:n.864G>T | ||
| NR_134993.1:n.998G>T | ||
| NR_134994.1:n.1270G>T | ||
| XM_017000465.1:c.1046G>T | XP_016855954.1:p.Gly349Val | |
| XR_001737005.1:n.1336G>T | ||
| NM_000778.4:c.1358G>T MANE Select | NP_000769.2:p.Gly453Val | |
| NM_001319155.2:c.1262G>T | NP_001306084.1:p.Gly421Val | |
| NM_001363587.2:c.1064G>T | NP_001350516.1:p.Gly355Val | |
| NR_134988.2:n.1055G>T | ||
| NR_134989.2:n.1246G>T | ||
| NR_134990.2:n.1240G>T | ||
| NR_134991.2:n.1227G>T | ||
| NR_134992.2:n.856G>T | ||
| NR_134993.2:n.990G>T | ||
| NR_134994.2:n.1262G>T |