Linked Data
dbSNP Id:
rs180754844
ExAC:
4:120241988 A / G
gnomAD v2:
4-120241988-A-G
gnomAD v3:
4-119320833-A-G
gnomAD v4:
4-119320833-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320833A>G , CM000666.2:g.119320833A>G | GRCh38 |
| NC_000004.11:g.120241988A>G , CM000666.1:g.120241988A>G | GRCh37 |
| NC_000004.10:g.120461436A>G | NCBI36 |
| NG_011444.1:g.6329T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.77T>C MANE Select | ENSP00000274024.3:p.Ile26Thr | |
| ENST00000274024.3:c.77T>C | ENSP00000274024.3:p.Ile26Thr | |
| NM_000134.3:c.77T>C | NP_000125.2:p.Ile26Thr | |
| NM_000134.4:c.77T>C MANE Select | NP_000125.2:p.Ile26Thr |