Linked Data
dbSNP Id:
rs761333724
ExAC:
3:121712100 G / A
gnomAD v2:
3-121712100-G-A
gnomAD v3:
3-121993253-G-A
gnomAD v4:
3-121993253-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121993253G>A , CM000665.2:g.121993253G>A | GRCh38 |
| NC_000003.11:g.121712100G>A , CM000665.1:g.121712100G>A | GRCh37 |
| NC_000003.10:g.123194790G>A | NCBI36 |
| NG_031870.1:g.34028C>T | |
| NG_031870.2:g.72302C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344209.10:c.1496C>T MANE Select | ENSP00000345667.5:p.Ser499Leu | |
| ENST00000460554.2:n.1446C>T | ||
| ENST00000642615.1:c.*679C>T | ENSP00000495499.1:n.*679C>T | |
| ENST00000273691.7:c.1364C>T | ENSP00000273691.3:p.Ser455Leu | |
| ENST00000344209.9:c.1496C>T | ENSP00000345667.5:p.Ser499Leu | |
| ENST00000393631.5:c.1229C>T | ENSP00000377251.1:p.Ser410Leu | |
| ENST00000460554.1:n.1598C>T | ||
| ENST00000462014.1:c.1400C>T | ENSP00000419414.1:p.Ser467Leu | |
| NM_001199799.1:c.1496C>T | NP_001186728.1:p.Ser499Leu | |
| NM_001199800.1:c.1229C>T | NP_001186729.1:p.Ser410Leu | |
| NM_175924.3:c.1364C>T | NP_787120.1:p.Ser455Leu | |
| XM_005247389.3:c.1400C>T | XP_005247446.1:p.Ser467Leu | |
| XM_011512738.1:c.1496C>T | XP_011511040.1:p.Ser499Leu | |
| XM_011512739.1:c.959C>T | XP_011511041.1:p.Ser320Leu | |
| XM_005247389.4:c.1400C>T | XP_005247446.1:p.Ser467Leu | |
| XM_011512738.2:c.1496C>T | XP_011511040.1:p.Ser499Leu | |
| XM_011512739.2:c.959C>T | XP_011511041.1:p.Ser320Leu | |
| NM_001199799.2:c.1496C>T MANE Select | NP_001186728.1:p.Ser499Leu | |
| NM_001199800.2:c.1229C>T | NP_001186729.1:p.Ser410Leu | |
| NM_175924.4:c.1364C>T | NP_787120.1:p.Ser455Leu |