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