Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.52698213C>T , CM000663.2:g.52698213C>T | GRCh38 |
| NC_000001.10:g.53163885C>T , CM000663.1:g.53163885C>T | GRCh37 |
| NC_000001.9:g.52936473C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_023077.3:c.106+8G>A MANE Select | NP_075565.2:n.106+8G>A |
| ENST00000371538.5:c.106+8G>A MANE Select | ENSP00000360593.3:n.106+8G>A |
| NM_023077.2:c.106+8G>A | NP_075565.2:n.106+8G>A |
| ENST00000371538.4:c.106+8G>A | ENSP00000360593.3:n.106+8G>A |