Linked Data
dbSNP Id:
rs554806617
ExAC:
14:103566888 T / A
gnomAD v2:
14-103566888-T-A
gnomAD v3:
14-103100551-T-A
gnomAD v4:
14-103100551-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.103100551T>A , CM000676.2:g.103100551T>A | GRCh38 |
| NC_000014.8:g.103566888T>A , CM000676.1:g.103566888T>A | GRCh37 |
| NC_000014.7:g.102636641T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687959.1:c.332T>A | ENSP00000508483.1:p.Met111Lys | |
| ENST00000688303.1:c.332T>A MANE Select | ENSP00000509130.1:p.Met111Lys | |
| ENST00000380069.7:c.332T>A | ENSP00000369409.3:p.Met111Lys | |
| ENST00000559116.1:c.224T>A | ENSP00000454163.1:p.Met75Lys | |
| NM_001077594.1:c.332T>A | NP_001071062.1:p.Met111Lys | |
| XM_011537323.1:c.506T>A | XP_011535625.1:p.Met169Lys | |
| XM_011537324.1:c.506T>A | XP_011535626.1:p.Met169Lys | |
| XM_011537325.1:c.332T>A | XP_011535627.1:p.Met111Lys | |
| XM_011537326.1:c.332T>A | XP_011535628.1:p.Met111Lys | |
| XM_011537327.1:c.332T>A | XP_011535629.1:p.Met111Lys | |
| XM_011537328.1:c.332T>A | XP_011535630.1:p.Met111Lys | |
| XM_011537329.1:c.332T>A | XP_011535631.1:p.Met111Lys | |
| XM_011537330.1:c.332T>A | XP_011535632.1:p.Met111Lys | |
| XM_011537331.1:c.332T>A | XP_011535633.1:p.Met111Lys | |
| XM_011537332.1:c.332T>A | XP_011535634.1:p.Met111Lys | |
| XM_011537333.1:c.443T>A | XP_011535635.1:p.Met148Lys | |
| XM_011537334.1:c.-944T>A | XP_011535636.1:n.-944T>A | |
| XR_943558.1:n.1061T>A | ||
| XM_011537323.3:c.506T>A | XP_011535625.1:p.Met169Lys | |
| XM_011537324.2:c.506T>A | XP_011535626.1:p.Met169Lys | |
| XM_011537325.2:c.332T>A | XP_011535627.1:p.Met111Lys | |
| XM_011537327.2:c.332T>A | XP_011535629.1:p.Met111Lys | |
| XM_011537328.2:c.332T>A | XP_011535630.1:p.Met111Lys | |
| XM_011537329.2:c.332T>A | XP_011535631.1:p.Met111Lys | |
| XM_011537330.2:c.332T>A | XP_011535632.1:p.Met111Lys | |
| XM_011537332.2:c.332T>A | XP_011535634.1:p.Met111Lys | |
| XM_011537333.2:c.443T>A | XP_011535635.1:p.Met148Lys | |
| XR_943558.2:n.1088T>A | ||
| NM_001077594.2:c.332T>A MANE Select | NP_001071062.1:p.Met111Lys | |
| NM_001394941.1:c.332T>A | NP_001381870.1:p.Met111Lys | |
| NM_001394942.1:c.332T>A | NP_001381871.1:p.Met111Lys |