Linked Data
dbSNP Id:
rs1244497174
gnomAD v2:
2-88874564-A-C
gnomAD v3:
2-88575046-A-C
gnomAD v4:
2-88575046-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88575046A>C , CM000664.2:g.88575046A>C | GRCh38 |
| NC_000002.11:g.88874564A>C , CM000664.1:g.88874564A>C | GRCh37 |
| NC_000002.10:g.88655679A>C | NCBI36 |
| NG_016424.1:g.57531T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478003.2:n.2265T>G | ||
| ENST00000682276.1:n.1882T>G | ||
| ENST00000682892.1:c.1984T>G | ENSP00000507214.1:p.Cys662Gly | |
| ENST00000682952.1:n.2076T>G | ||
| ENST00000684455.1:c.1650T>G | ||
| ENST00000684642.1:c.1834T>G | ENSP00000507355.1:p.Cys612Gly | |
| ENST00000684740.1:n.2615T>G | ||
| ENST00000303236.9:c.2437T>G MANE Select | ENSP00000307235.3:p.Cys813Gly | |
| ENST00000652099.1:c.2631T>G | ||
| ENST00000652736.1:n.2313T>G | ||
| ENST00000303236.7:c.2437T>G | ENSP00000307235.3:p.Cys813Gly | |
| ENST00000415570.1:c.2074T>G | ENSP00000412076.1:p.Cys692Gly | |
| ENST00000419748.5:c.1984T>G | ENSP00000408325.1:p.Cys662Gly | |
| ENST00000470706.1:n.80T>G | ||
| NM_001313915.1:c.1984T>G | NP_001300844.1:p.Cys662Gly | |
| NM_004836.5:c.2437T>G | NP_004827.4:p.Cys813Gly | |
| NM_004836.6:c.2437T>G | NP_004827.4:p.Cys813Gly | |
| NR_110236.1:n.1183A>C | ||
| XM_005264649.3:c.1753T>G | XP_005264706.1:p.Cys585Gly | |
| XM_017005376.2:c.1753T>G | XP_016860865.1:p.Cys585Gly | |
| NM_004836.7:c.2437T>G MANE Select | NP_004827.4:p.Cys813Gly | |
| NM_001313915.2:c.1984T>G | NP_001300844.1:p.Cys662Gly |