Linked Data
dbSNP Id:
rs761953538
ExAC:
10:101605431 C / T
gnomAD v2:
10-101605431-C-T
gnomAD v4:
10-99845674-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99845674C>T , CM000672.2:g.99845674C>T | GRCh38 |
| NC_000010.10:g.101605431C>T , CM000672.1:g.101605431C>T | GRCh37 |
| NC_000010.9:g.101595421C>T | NCBI36 |
| NG_011798.1:g.67969C>T | |
| NG_011798.2:g.68077C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.4038C>T MANE Select | ENSP00000497274.1:p.Cys1346= | |
| ENST00000649459.1:n.386C>T | ||
| ENST00000370449.8:c.4038C>T | ENSP00000359478.4:p.Cys1346= | |
| NM_000392.4:c.4038C>T | NP_000383.1:p.Cys1346= | |
| XM_006717630.2:c.3342C>T | XP_006717693.1:p.Cys1114= | |
| XR_945604.1:n.4177-9C>T | ||
| XR_945605.1:n.4102C>T | ||
| NM_000392.5:c.4038C>T MANE Select | NP_000383.2:p.Cys1346= | |
| XM_006717630.3:c.3342C>T | XP_006717693.1:p.Cys1114= | |
| XR_945604.3:n.4231-9C>T | ||
| XR_945605.3:n.4154C>T |