Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148005600A>C , CM000669.2:g.148005600A>C | GRCh38 |
| NC_000007.13:g.147702692A>C , CM000669.1:g.147702692A>C | GRCh37 |
| NC_000007.12:g.147333625A>C | NCBI36 |
| NG_007092.2:g.1894240A>C | |
| NG_007092.3:g.1894600A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.2383+27611A>C MANE Select | NP_054860.1:n.2383+27611A>C |
| ENST00000361727.8:c.2383+27611A>C MANE Select | ENSP00000354778.3:n.2383+27611A>C |
| NM_014141.5:c.2383+27611A>C | NP_054860.1:n.2383+27611A>C |
| ENST00000361727.7:c.2383+27611A>C | ENSP00000354778.3:n.2383+27611A>C |
| ENST00000627772.2:n.556+27611A>C | |
| ENST00000636870.1:n.2245+27611A>C | |
| ENST00000637825.1:n.1867-7571A>C | |
| XM_006715919.1:c.871+27611A>C | XP_006715982.1:n.871+27611A>C |