Linked Data
dbSNP Id:
rs752862441
ExAC:
9:133346873 T / C
gnomAD v2:
9-133346873-T-C
gnomAD v3:
9-130471486-T-C
gnomAD v4:
9-130471486-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130471486T>C , CM000671.2:g.130471486T>C | GRCh38 |
| NC_000009.11:g.133346873T>C , CM000671.1:g.133346873T>C | GRCh37 |
| NC_000009.10:g.132336694T>C | NCBI36 |
| NG_011542.1:g.31780T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.568T>C MANE Select | ENSP00000253004.6:p.Tyr190His | |
| ENST00000352480.9:c.568T>C | ENSP00000253004.6:p.Tyr190His | |
| ENST00000372393.7:c.568T>C | ENSP00000361469.2:p.Tyr190His | |
| ENST00000372394.5:c.568T>C | ENSP00000361471.1:p.Tyr190His | |
| ENST00000422569.5:c.568T>C | ENSP00000394212.1:p.Tyr190His | |
| ENST00000443588.1:c.511T>C | ENSP00000397785.1:p.Tyr171His | |
| ENST00000467695.5:n.277T>C | ||
| ENST00000493984.6:n.399T>C | ||
| NM_000050.4:c.568T>C | NP_000041.2:p.Tyr190His | |
| NM_054012.3:c.568T>C | NP_446464.1:p.Tyr190His | |
| XM_005272200.2:c.568T>C | XP_005272257.1:p.Tyr190His | |
| XM_011518705.1:c.682T>C | XP_011517007.1:p.Tyr228His | |
| XM_005272200.3:c.568T>C | XP_005272257.1:p.Tyr190His | |
| XM_011518705.2:c.682T>C | XP_011517007.1:p.Tyr228His | |
| XM_017014729.1:c.664T>C | XP_016870218.1:p.Tyr222His | |
| NM_054012.4:c.568T>C MANE Select | NP_446464.1:p.Tyr190His |