Linked Data
dbSNP Id:
rs772009281
ExAC:
10:101596033 G / T
gnomAD v2:
10-101596033-G-T
gnomAD v3:
10-99836276-G-T
gnomAD v4:
10-99836276-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99836276G>T , CM000672.2:g.99836276G>T | GRCh38 |
| NC_000010.10:g.101596033G>T , CM000672.1:g.101596033G>T | GRCh37 |
| NC_000010.9:g.101586023G>T | NCBI36 |
| NG_011798.1:g.58571G>T | |
| NG_011798.2:g.58679G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3600G>T MANE Select | ENSP00000497274.1:p.Trp1200Cys | |
| ENST00000370449.8:c.3600G>T | ENSP00000359478.4:p.Trp1200Cys | |
| NM_000392.4:c.3600G>T | NP_000383.1:p.Trp1200Cys | |
| XM_006717630.2:c.2904G>T | XP_006717693.1:p.Trp968Cys | |
| XR_945604.1:n.3789G>T | ||
| XR_945605.1:n.3791G>T | ||
| NM_000392.5:c.3600G>T MANE Select | NP_000383.2:p.Trp1200Cys | |
| XM_006717630.3:c.2904G>T | XP_006717693.1:p.Trp968Cys | |
| XR_945604.3:n.3843G>T | ||
| XR_945605.3:n.3843G>T |