Linked Data
dbSNP Id:
rs201921716
gnomAD v2:
12-129299466-G-C
gnomAD v3:
12-128814921-G-C
gnomAD v4:
12-128814921-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.128814921G>C , CM000674.2:g.128814921G>C | GRCh38 |
| NC_000012.11:g.129299466G>C , CM000674.1:g.129299466G>C | GRCh37 |
| NC_000012.10:g.127865419G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266771.10:c.696C>G MANE Select | ENSP00000266771.5:p.Cys232Trp | |
| ENST00000266771.9:c.696C>G | ENSP00000266771.5:p.Cys232Trp | |
| ENST00000366292.6:n.1008C>G | ||
| ENST00000376740.8:c.275C>G | ||
| ENST00000376744.8:c.532C>G | ||
| ENST00000539703.1:n.346C>G | ||
| ENST00000614634.1:c.-147C>G | ENSP00000483143.1:n.-147C>G | |
| NM_145648.3:c.696C>G | NP_663623.1:p.Cys232Trp | |
| XM_011537895.1:c.846C>G | XP_011536197.1:p.Cys282Trp | |
| XR_429081.2:n.719C>G | ||
| XR_944494.1:n.869C>G | ||
| XR_944495.1:n.869C>G | ||
| XR_944496.1:n.869C>G | ||
| XR_944497.1:n.869C>G | ||
| XM_017018791.1:c.846C>G | XP_016874280.1:p.Cys282Trp | |
| XM_017018792.1:c.846C>G | XP_016874281.1:p.Cys282Trp | |
| XM_017018793.1:c.696C>G | XP_016874282.1:p.Cys232Trp | |
| XR_002957287.1:n.719C>G | ||
| XR_944496.2:n.869C>G | ||
| NM_145648.4:c.696C>G MANE Select | NP_663623.1:p.Cys232Trp |