Linked Data
dbSNP Id:
rs745415156
ExAC:
8:133885436 T / A
gnomAD v2:
8-133885436-T-A
gnomAD v4:
8-132873191-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132873191T>A , CM000670.2:g.132873191T>A | GRCh38 |
| NC_000008.10:g.133885436T>A , CM000670.1:g.133885436T>A | GRCh37 |
| NC_000008.9:g.133954618T>A | NCBI36 |
| NG_015832.1:g.11232T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.608T>A MANE Select | ENSP00000220616.4:p.Met203Lys | |
| ENST00000220616.8:c.608T>A | ENSP00000220616.4:p.Met203Lys | |
| ENST00000523901.1:c.*459T>A | ENSP00000427871.1:n.*459T>A | |
| NM_003235.4:c.608T>A | NP_003226.4:p.Met203Lys | |
| XM_005251038.3:c.608T>A | XP_005251095.1:p.Met203Lys | |
| XM_005251040.3:c.608T>A | XP_005251097.1:p.Met203Lys | |
| XM_005251042.3:c.608T>A | XP_005251099.1:p.Met203Lys | |
| XM_005251043.3:c.608T>A | XP_005251100.1:p.Met203Lys | |
| XM_006716622.2:c.608T>A | XP_006716685.1:p.Met203Lys | |
| XM_005251038.4:c.608T>A | XP_005251095.1:p.Met203Lys | |
| XM_005251040.4:c.608T>A | XP_005251097.1:p.Met203Lys | |
| XM_005251042.4:c.608T>A | XP_005251099.1:p.Met203Lys | |
| XM_006716622.3:c.608T>A | XP_006716685.1:p.Met203Lys | |
| XM_017013793.1:c.608T>A | XP_016869282.1:p.Met203Lys | |
| XM_017013794.1:c.608T>A | XP_016869283.1:p.Met203Lys | |
| XM_017013795.1:c.608T>A | XP_016869284.1:p.Met203Lys | |
| XM_017013796.1:c.608T>A | XP_016869285.1:p.Met203Lys | |
| XM_017013797.1:c.347T>A | XP_016869286.1:p.Met116Lys | |
| XM_017013798.1:c.608T>A | XP_016869287.1:p.Met203Lys | |
| XM_017013799.1:c.608T>A | XP_016869288.1:p.Met203Lys | |
| XM_017013800.1:c.608T>A | XP_016869289.1:p.Met203Lys | |
| NM_003235.5:c.608T>A MANE Select | NP_003226.4:p.Met203Lys |