Linked Data
dbSNP Id:
rs536644067
ExAC:
5:112399761 G / A
gnomAD v2:
5-112399761-G-A
gnomAD v3:
5-113064064-G-A
gnomAD v4:
5-113064064-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.113064064G>A , CM000667.2:g.113064064G>A | GRCh38 |
| NC_000005.9:g.112399761G>A , CM000667.1:g.112399761G>A | GRCh37 |
| NC_000005.8:g.112427660G>A | NCBI36 |
| NG_012265.1:g.429767C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302475.9:c.1563C>T | ENSP00000305617.4:p.Asp521= | |
| ENST00000408903.7:c.2133C>T MANE Select | ENSP00000386227.3:p.Asp711= | |
| ENST00000302475.8:c.1563C>T | ENSP00000305617.4:p.Asp521= | |
| ENST00000408903.6:c.2133C>T | ENSP00000386227.3:p.Asp711= | |
| ENST00000514701.5:c.1563C>T | ENSP00000485220.1:p.Asp521= | |
| ENST00000515367.6:c.1374C>T | ENSP00000421615.2:p.Asp458= | |
| NM_001085377.1:c.2133C>T | NP_001078846.1:p.Asp711= | |
| NM_002387.2:c.1563C>T | NP_002378.1:p.Asp521= | |
| XM_005271991.2:c.1563C>T | XP_005272048.1:p.Asp521= | |
| XM_005271991.3:c.1563C>T | XP_005272048.1:p.Asp521= | |
| XM_017009473.1:c.2133C>T | XP_016864962.1:p.Asp711= | |
| XM_017009474.1:c.1533C>T | XP_016864963.1:p.Asp511= | |
| XM_024446049.1:c.1374C>T | XP_024301817.1:p.Asp458= | |
| XM_024446050.1:c.1374C>T | XP_024301818.1:p.Asp458= | |
| XM_024446051.1:c.1374C>T | XP_024301819.1:p.Asp458= | |
| XM_024446052.1:c.1374C>T | XP_024301820.1:p.Asp458= | |
| NM_001085377.2:c.2133C>T MANE Select | NP_001078846.2:p.Asp711= | |
| NM_002387.3:c.1563C>T | NP_002378.2:p.Asp521= |