Linked Data
dbSNP Id:
rs760988714
ExAC:
12:96384175 T / A
gnomAD v3:
12-95990397-T-A
gnomAD v4:
12-95990397-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.95990397T>A , CM000674.2:g.95990397T>A | GRCh38 |
| NC_000012.11:g.96384175T>A , CM000674.1:g.96384175T>A | GRCh37 |
| NC_000012.10:g.94908306T>A | NCBI36 |
| NG_008180.1:g.10897A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261208.8:c.851A>T MANE Select | ENSP00000261208.3:p.Lys284Ile | |
| ENST00000261208.7:c.851A>T | ENSP00000261208.3:p.Lys284Ile | |
| ENST00000538703.5:c.851A>T | ENSP00000440861.1:p.Lys284Ile | |
| ENST00000541929.5:c.227A>T | ENSP00000446364.1:p.Lys76Ile | |
| ENST00000544080.6:c.*280A>T | ENSP00000439385.2:n.*280A>T | |
| ENST00000546999.5:c.*280A>T | ENSP00000447675.1:n.*280A>T | |
| ENST00000549376.1:n.244A>T | ||
| ENST00000551562.1:n.111A>T | ||
| ENST00000552509.5:c.815A>T | ENSP00000450372.1:p.Lys272Ile | |
| NM_001258333.1:c.227A>T | NP_001245262.1:p.Lys76Ile | |
| NM_001258334.1:c.851A>T | NP_001245263.1:p.Lys284Ile | |
| NM_002108.3:c.851A>T | NP_002099.1:p.Lys284Ile | |
| XM_011538249.1:c.4-2157A>T | XP_011536551.1:n.4-2157A>T | |
| XM_011538249.2:c.4-2157A>T | XP_011536551.1:n.4-2157A>T | |
| NM_002108.4:c.851A>T MANE Select | NP_002099.1:p.Lys284Ile | |
| NM_001258334.2:c.851A>T | NP_001245263.1:p.Lys284Ile | |
| NM_001258333.2:c.227A>T | NP_001245262.1:p.Lys76Ile |