ClinVar RCV:
ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132180246G>A , CM000670.2:g.132180246G>A | GRCh38 |
| NC_000008.10:g.133192493G>A , CM000670.1:g.133192493G>A | GRCh37 |
| NC_000008.9:g.133261675G>A | NCBI36 |
| NG_008854.2:g.305512C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388996.10:c.688C>T MANE Select | ENSP00000373648.3:p.Arg230Cys | |
| ENST00000521134.6:c.328C>T | ENSP00000429799.1:p.Arg110Cys | |
| ENST00000638588.1:c.361C>T | ENSP00000491940.1:p.Arg121Cys | |
| ENST00000639358.1:c.338C>T | ||
| ENST00000639496.1:c.361C>T | ENSP00000491165.1:p.Arg121Cys | |
| ENST00000388996.8:c.688C>T | ENSP00000373648.3:p.Arg230Cys | |
| ENST00000519445.5:c.688C>T | ENSP00000428790.1:p.Arg230Cys | |
| ENST00000519589.1:n.466C>T | ||
| ENST00000521134.5:c.328C>T | ENSP00000429799.1:p.Arg110Cys | |
| ENST00000621976.1:c.325C>T | ENSP00000482510.1:p.Arg109Cys | |
| NM_001204824.1:c.328C>T | NP_001191753.1:p.Arg110Cys | |
| NM_004519.3:c.688C>T | NP_004510.1:p.Arg230Cys | |
| XM_005250914.2:c.-469C>T | XP_005250971.1:n.-469C>T | |
| XM_006716555.2:c.-21C>T | XP_006716618.1:n.-21C>T | |
| XM_011517026.1:c.328C>T | XP_011515328.1:p.Arg110Cys | |
| XM_005250914.3:c.-469C>T | XP_005250971.1:n.-469C>T | |
| XM_006716555.3:c.-21C>T | XP_006716618.1:n.-21C>T | |
| XM_011517026.2:c.328C>T | XP_011515328.1:p.Arg110Cys | |
| XM_017013400.1:c.466C>T | XP_016868889.1:p.Arg156Cys | |
| NM_004519.4:c.688C>T MANE Select | NP_004510.1:p.Arg230Cys | |
| NM_001204824.2:c.328C>T | NP_001191753.1:p.Arg110Cys |