Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862789G>C , CM000666.2:g.4862789G>C | GRCh38 |
| NC_000004.11:g.4864516G>C , CM000666.1:g.4864516G>C | GRCh37 |
| NC_000004.10:g.4915417G>C | NCBI36 |
| NG_008121.1:g.8125G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.558G>C MANE Select | ENSP00000372170.4:p.Ala186= | |
| ENST00000382723.4:c.558G>C | ENSP00000372170.4:p.Ala186= | |
| ENST00000468421.1:n.270G>C | ||
| NM_002448.3:c.558G>C MANE Select | NP_002439.2:p.Ala186= |