Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6112288C>G , CM000663.2:g.6112288C>G | GRCh38 |
| NC_000001.10:g.6172348C>G , CM000663.1:g.6172348C>G | GRCh37 |
| NC_000001.9:g.6094935C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262450.8:c.5003-11G>C MANE Select | ENSP00000262450.3:n.5003-11G>C | |
| ENST00000262450.7:c.5003-11G>C | ENSP00000262450.3:n.5003-11G>C | |
| ENST00000377999.5:c.1906-11G>C | ENSP00000367238.2:n.1906-11G>C | |
| ENST00000462991.5:c.3256-11G>C | ||
| ENST00000496404.1:c.3721-11G>C | ENSP00000433676.1:n.3721-11G>C | |
| NM_015557.2:c.5003-11G>C | NP_056372.1:n.5003-11G>C | |
| NM_015557.3:c.5003-11G>C MANE Select | NP_056372.1:n.5003-11G>C |