Linked Data
dbSNP Id:
rs201019950
gnomAD v2:
5-112399808-G-A
gnomAD v3:
5-113064111-G-A
gnomAD v4:
5-113064111-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.113064111G>A , CM000667.2:g.113064111G>A | GRCh38 |
| NC_000005.9:g.112399808G>A , CM000667.1:g.112399808G>A | GRCh37 |
| NC_000005.8:g.112427707G>A | NCBI36 |
| NG_012265.1:g.429720C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302475.9:c.1516C>T | ENSP00000305617.4:p.Arg506Trp | |
| ENST00000408903.7:c.2086C>T MANE Select | ENSP00000386227.3:p.Arg696Trp | |
| ENST00000302475.8:c.1516C>T | ENSP00000305617.4:p.Arg506Trp | |
| ENST00000408903.6:c.2086C>T | ENSP00000386227.3:p.Arg696Trp | |
| ENST00000514701.5:c.1516C>T | ENSP00000485220.1:p.Arg506Trp | |
| ENST00000515367.6:c.1327C>T | ENSP00000421615.2:p.Arg443Trp | |
| NM_001085377.1:c.2086C>T | NP_001078846.1:p.Arg696Trp | |
| NM_002387.2:c.1516C>T | NP_002378.1:p.Arg506Trp | |
| XM_005271991.2:c.1516C>T | XP_005272048.1:p.Arg506Trp | |
| XM_005271991.3:c.1516C>T | XP_005272048.1:p.Arg506Trp | |
| XM_017009473.1:c.2086C>T | XP_016864962.1:p.Arg696Trp | |
| XM_017009474.1:c.1486C>T | XP_016864963.1:p.Arg496Trp | |
| XM_024446049.1:c.1327C>T | XP_024301817.1:p.Arg443Trp | |
| XM_024446050.1:c.1327C>T | XP_024301818.1:p.Arg443Trp | |
| XM_024446051.1:c.1327C>T | XP_024301819.1:p.Arg443Trp | |
| XM_024446052.1:c.1327C>T | XP_024301820.1:p.Arg443Trp | |
| NM_001085377.2:c.2086C>T MANE Select | NP_001078846.2:p.Arg696Trp | |
| NM_002387.3:c.1516C>T | NP_002378.2:p.Arg506Trp |