Linked Data
dbSNP Id:
rs1362208811
gnomAD v2:
9-127255330-G-T
gnomAD v3:
9-124493051-G-T
gnomAD v4:
9-124493051-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.124493051G>T , CM000671.2:g.124493051G>T | GRCh38 |
| NC_000009.11:g.127255330G>T , CM000671.1:g.127255330G>T | GRCh37 |
| NC_000009.10:g.126295151G>T | NCBI36 |
| NG_008176.1:g.19370C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373588.9:c.969C>A MANE Select | ENSP00000362690.4:p.Ile323= | |
| ENST00000373587.3:c.321C>A | ENSP00000362689.3:p.Ile107= | |
| ENST00000373588.8:c.969C>A | ENSP00000362690.4:p.Ile323= | |
| ENST00000620110.4:c.871-1823C>A | ENSP00000483309.1:n.871-1823C>A | |
| NM_004959.4:c.969C>A | NP_004950.2:p.Ile323= | |
| XM_005251871.2:c.969C>A | XP_005251928.1:p.Ile323= | |
| XM_005251872.3:c.708C>A | XP_005251929.1:p.Ile236= | |
| XM_011518455.1:c.969C>A | XP_011516757.1:p.Ile323= | |
| XM_011518456.1:c.870+7039C>A | XP_011516758.1:n.870+7039C>A | |
| NM_004959.5:c.969C>A MANE Select | NP_004950.2:p.Ile323= |