Linked Data
dbSNP Id:
rs749084548
ExAC:
10:101596019 T / G
gnomAD v2:
10-101596019-T-G
gnomAD v3:
10-99836262-T-G
gnomAD v4:
10-99836262-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99836262T>G , CM000672.2:g.99836262T>G | GRCh38 |
| NC_000010.10:g.101596019T>G , CM000672.1:g.101596019T>G | GRCh37 |
| NC_000010.9:g.101586009T>G | NCBI36 |
| NG_011798.1:g.58557T>G | |
| NG_011798.2:g.58665T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3586T>G MANE Select | ENSP00000497274.1:p.Cys1196Gly | |
| ENST00000370449.8:c.3586T>G | ENSP00000359478.4:p.Cys1196Gly | |
| NM_000392.4:c.3586T>G | NP_000383.1:p.Cys1196Gly | |
| XM_006717630.2:c.2890T>G | XP_006717693.1:p.Cys964Gly | |
| XR_945604.1:n.3775T>G | ||
| XR_945605.1:n.3777T>G | ||
| NM_000392.5:c.3586T>G MANE Select | NP_000383.2:p.Cys1196Gly | |
| XM_006717630.3:c.2890T>G | XP_006717693.1:p.Cys964Gly | |
| XR_945604.3:n.3829T>G | ||
| XR_945605.3:n.3829T>G |