Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31001531G>T , CM000678.2:g.31001531G>T | GRCh38 |
| NC_000016.9:g.31012852G>T , CM000678.1:g.31012852G>T | GRCh37 |
| NC_000016.8:g.30920353G>T | NCBI36 |
| NG_041829.1:g.13978C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.103C>A MANE Select | ENSP00000215095.5:p.Gln35Lys | |
| ENST00000565419.2:c.103C>A | ENSP00000455899.1:p.Gln35Lys | |
| ENST00000215095.9:c.103C>A | ENSP00000215095.5:p.Gln35Lys | |
| ENST00000561836.1:n.209C>A | ||
| ENST00000565419.1:c.103C>A | ENSP00000455899.1:p.Gln35Lys | |
| NM_052874.4:c.103C>A | NP_443106.1:p.Gln35Lys | |
| XM_017022893.1:c.85C>A | XP_016878382.1:p.Gln29Lys | |
| NM_052874.5:c.103C>A MANE Select | NP_443106.1:p.Gln35Lys |