Linked Data
ClinVar Variation Id:
138097
dbSNP Id:
rs141727672
ExAC:
5:145508298 A / G
gnomAD v2:
5-145508298-A-G
gnomAD v3:
5-146128735-A-G
gnomAD v4:
5-146128735-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146128735A>G , CM000667.2:g.146128735A>G | GRCh38 |
| NC_000005.9:g.145508298A>G , CM000667.1:g.145508298A>G | GRCh37 |
| NC_000005.8:g.145488491A>G | NCBI36 |
| NG_042294.1:g.58997T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394434.7:c.2817T>C MANE Select | ENSP00000377954.2:p.Tyr939= | |
| ENST00000504323.6:n.3247T>C | ||
| ENST00000506231.6:n.5699T>C | ||
| ENST00000674158.1:c.2436T>C | ENSP00000501474.1:p.Tyr812= | |
| ENST00000674170.1:c.*1255T>C | ENSP00000501381.1:n.*1255T>C | |
| ENST00000674174.1:c.2655T>C | ENSP00000501434.1:p.Tyr885= | |
| ENST00000674181.1:c.1064T>C | ||
| ENST00000674191.1:c.2361T>C | ENSP00000501478.1:p.Tyr787= | |
| ENST00000674218.1:n.5604T>C | ||
| ENST00000674270.1:c.2679T>C | ENSP00000501365.1:p.Tyr893= | |
| ENST00000674277.1:c.2652T>C | ENSP00000501510.1:p.Tyr884= | |
| ENST00000674290.1:c.2781T>C | ENSP00000501435.1:p.Tyr927= | |
| ENST00000674309.1:c.*173T>C | ENSP00000501400.1:n.*173T>C | |
| ENST00000674310.1:c.2817T>C | ENSP00000501486.1:p.Tyr939= | |
| ENST00000674383.1:n.5470T>C | ||
| ENST00000674398.1:c.2814T>C | ENSP00000501476.1:p.Tyr938= | |
| ENST00000674447.1:c.2736T>C | ENSP00000501376.1:p.Tyr912= | |
| ENST00000674467.1:c.*739T>C | ENSP00000501351.1:n.*739T>C | |
| ENST00000674471.1:n.3085T>C | ||
| ENST00000674479.1:n.3854T>C | ||
| ENST00000274562.13:c.744T>C | ENSP00000274562.10:p.Tyr248= | |
| ENST00000394434.6:c.2817T>C | ENSP00000377954.2:p.Tyr939= | |
| ENST00000506231.5:n.2798T>C | ||
| ENST00000508709.1:n.351T>C | ||
| ENST00000510191.5:c.2655T>C | ENSP00000426005.1:p.Tyr885= | |
| NM_020117.9:c.2817T>C | NP_064502.9:p.Tyr939= | |
| XM_011537655.1:c.2679T>C | XP_011535957.1:p.Tyr893= | |
| XM_011537656.1:c.2655T>C | XP_011535958.1:p.Tyr885= | |
| XM_011537657.1:c.2604T>C | XP_011535959.1:p.Tyr868= | |
| NM_001317964.1:c.2679T>C | NP_001304893.1:p.Tyr893= | |
| NM_001317965.1:c.2655T>C | NP_001304894.1:p.Tyr885= | |
| NM_016460.3:c.2736T>C | NP_057544.2:p.Tyr912= | |
| NM_020117.10:c.2817T>C | NP_064502.9:p.Tyr939= | |
| XM_011537656.3:c.2655T>C | XP_011535958.1:p.Tyr885= | |
| NM_020117.11:c.2817T>C MANE Select | NP_064502.9:p.Tyr939= | |
| NM_001317964.2:c.2679T>C | NP_001304893.1:p.Tyr893= | |
| NM_001317965.2:c.2655T>C | NP_001304894.1:p.Tyr885= | |
| NM_016460.4:c.2736T>C | NP_057544.2:p.Tyr912= |