Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8014857A>C , CM000679.2:g.8014857A>C | GRCh38 |
| NC_000017.10:g.7918175A>C , CM000679.1:g.7918175A>C | GRCh37 |
| NC_000017.9:g.7858900A>C | NCBI36 |
| NG_009092.1:g.17188A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000180.4:c.2577-2A>C MANE Select | NP_000171.1:n.2577-2A>C |
| ENST00000254854.5:c.2577-2A>C MANE Select | ENSP00000254854.4:n.2577-2A>C |
| NM_000180.3:c.2577-2A>C | NP_000171.1:n.2577-2A>C |
| ENST00000254854.4:c.2577-2A>C | ENSP00000254854.4:n.2577-2A>C |
| XM_011523816.1:c.2577-2A>C | XP_011522118.1:n.2577-2A>C |