Linked Data
dbSNP Id:
rs951331805
gnomAD v2:
10-73768003-C-A
gnomAD v3:
10-72008245-C-A
gnomAD v4:
10-72008245-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72008245C>A , CM000672.2:g.72008245C>A | GRCh38 |
| NC_000010.10:g.73768003C>A , CM000672.1:g.73768003C>A | GRCh37 |
| NC_000010.9:g.73438009C>A | NCBI36 |
| NG_012635.1:g.48884C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.1214C>A MANE Select | ENSP00000362207.4:p.Thr405Lys | |
| ENST00000373115.4:c.1214C>A | ENSP00000362207.4:p.Thr405Lys | |
| NM_004273.4:c.1214C>A | NP_004264.2:p.Thr405Lys | |
| XM_006718075.2:c.1214C>A | XP_006718138.1:p.Thr405Lys | |
| XM_011540369.1:c.1214C>A | XP_011538671.1:p.Thr405Lys | |
| XM_006718075.4:c.1214C>A | XP_006718138.1:p.Thr405Lys | |
| XM_011540369.2:c.1214C>A | XP_011538671.1:p.Thr405Lys | |
| NM_004273.5:c.1214C>A MANE Select | NP_004264.2:p.Thr405Lys |