Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150305958C= , CM000663.2:g.150305958C= | GRCh38 |
| NC_000001.10:g.150278389C= , CM000663.1:g.150278389C= | GRCh37 |
| NC_000001.9:g.148545013C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031901.6:c.84-2090C= MANE Select | NP_114107.2:n.84-2090C= |
| ENST00000614145.5:c.84-2090C= MANE Select | ENSP00000480129.1:n.84-2090C= |
| NM_018997.3:c.84-2090C= | NP_061870.1:n.84-2090C= |
| NM_018997.4:c.84-2090C= | NP_061870.2:n.84-2090C= |
| NM_031901.5:c.84-2090C= | NP_114107.1:n.84-2090C= |
| ENST00000581066.2:c.84-2090C= | ENSP00000461930.1:n.84-2090C= |
| ENST00000614145.4:c.84-2090C= | ENSP00000480129.1:n.84-2090C= |