Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.44540905G>A , CM000685.2:g.44540905G>A | GRCh38 |
| NC_000023.10:g.44400151G>A , CM000685.1:g.44400151G>A | GRCh37 |
| NC_000023.9:g.44285095G>A | NCBI36 |
| NG_021288.1:g.7071C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378045.5:c.185+1040C>T MANE Select | ENSP00000367284.4:n.185+1040C>T | |
| ENST00000378045.4:c.185+1040C>T | ENSP00000367284.4:n.185+1040C>T | |
| ENST00000483115.1:n.360+1040C>T | ||
| NM_173794.3:c.185+1040C>T | NP_776155.1:n.185+1040C>T | |
| NM_173794.4:c.185+1040C>T MANE Select | NP_776155.1:n.185+1040C>T |