Linked Data
ClinVar Variation Id:
1181216
ClinVar RCV Id:
RCV001538537
dbSNP Id:
rs17133762
gnomAD v2:
10-4889139-C-A
gnomAD v3:
10-4846947-C-A
gnomAD v4:
10-4846947-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.4846947C>A , CM000672.2:g.4846947C>A | GRCh38 |
| NC_000010.10:g.4889139C>A , CM000672.1:g.4889139C>A | GRCh37 |
| NC_000010.9:g.4879139C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298375.12:c.838-201C>A MANE Select | ENSP00000298375.7:n.838-201C>A | |
| ENST00000298375.11:c.838-201C>A | ENSP00000298375.7:n.838-201C>A | |
| ENST00000334019.4:c.667-201C>A | ENSP00000335034.4:n.667-201C>A | |
| ENST00000345253.9:c.544-201C>A | ENSP00000335603.5:n.544-201C>A | |
| ENST00000463345.5:c.838-201C>A | ENSP00000436794.1:n.838-201C>A | |
| ENST00000474119.5:c.526-201C>A | ENSP00000434437.1:n.526-201C>A | |
| ENST00000487985.1:c.184-201C>A | ||
| ENST00000532248.5:c.667-201C>A | ENSP00000432947.1:n.667-201C>A | |
| NM_001040177.2:c.838-201C>A | NP_001035267.1:n.838-201C>A | |
| NM_001271021.1:c.667-201C>A | NP_001257950.1:n.667-201C>A | |
| NM_001271025.1:c.544-201C>A | NP_001257954.1:n.544-201C>A | |
| NR_073125.1:n.986-201C>A | ||
| NR_073126.1:n.900-201C>A | ||
| NR_073127.1:n.815-201C>A | ||
| XM_011519715.1:c.901-201C>A | XP_011518017.1:n.901-201C>A | |
| XM_011519717.1:c.784-201C>A | XP_011518019.1:n.784-201C>A | |
| XM_011519718.1:c.901-541C>A | XP_011518020.1:n.901-541C>A | |
| XM_011519720.1:c.*14-201C>A | XP_011518022.1:n.*14-201C>A | |
| XM_011519722.1:c.*14-541C>A | XP_011518024.1:n.*14-541C>A | |
| XM_011519723.1:c.*13+4443C>A | XP_011518025.1:n.*13+4443C>A | |
| XM_011519724.1:c.730-201C>A | XP_011518026.1:n.730-201C>A | |
| XM_011519726.1:c.607-201C>A | XP_011518028.1:n.607-201C>A | |
| XM_011519727.1:c.550-201C>A | XP_011518029.1:n.550-201C>A | |
| XM_011519728.1:c.526-201C>A | XP_011518030.1:n.526-201C>A | |
| XR_930518.1:n.1273-201C>A | ||
| XR_930519.1:n.1393-201C>A | ||
| XR_930520.1:n.1256-201C>A | ||
| XM_011519715.2:c.901-201C>A | XP_011518017.1:n.901-201C>A | |
| XM_011519718.2:c.901-541C>A | XP_011518020.1:n.901-541C>A | |
| XM_011519720.2:c.*14-201C>A | XP_011518022.1:n.*14-201C>A | |
| XM_011519722.2:c.*14-541C>A | XP_011518024.1:n.*14-541C>A | |
| XM_011519724.2:c.730-201C>A | XP_011518026.1:n.730-201C>A | |
| XM_017016744.1:c.*13+4443C>A | XP_016872233.1:n.*13+4443C>A | |
| XM_017016745.1:c.526-541C>A | XP_016872234.1:n.526-541C>A | |
| XM_024448224.1:c.721-201C>A | XP_024303992.1:n.721-201C>A | |
| XM_024448225.1:c.838-541C>A | XP_024303993.1:n.838-541C>A | |
| XM_024448226.1:c.607-541C>A | XP_024303994.1:n.607-541C>A | |
| XR_001747220.1:n.1283-201C>A | ||
| XR_001747221.1:n.1072-201C>A | ||
| XR_001747222.1:n.1385-201C>A | ||
| XR_001747223.1:n.1947-201C>A | ||
| XR_002957024.1:n.1182-201C>A | ||
| XR_930518.2:n.1282-201C>A | ||
| XR_930519.2:n.1402-201C>A | ||
| XR_930520.2:n.1265-201C>A | ||
| NM_001040177.3:c.838-201C>A MANE Select | NP_001035267.1:n.838-201C>A | |
| NM_001271021.2:c.667-201C>A | NP_001257950.1:n.667-201C>A | |
| NM_001271025.2:c.544-201C>A | NP_001257954.1:n.544-201C>A | |
| NR_073125.2:n.956-201C>A | ||
| NR_073127.2:n.785-201C>A |