Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.44540940G>T , CM000685.2:g.44540940G>T | GRCh38 |
| NC_000023.10:g.44400186G>T , CM000685.1:g.44400186G>T | GRCh37 |
| NC_000023.9:g.44285130G>T | NCBI36 |
| NG_021288.1:g.7036C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378045.5:c.185+1005C>A MANE Select | ENSP00000367284.4:n.185+1005C>A | |
| ENST00000378045.4:c.185+1005C>A | ENSP00000367284.4:n.185+1005C>A | |
| ENST00000483115.1:n.360+1005C>A | ||
| NM_173794.3:c.185+1005C>A | NP_776155.1:n.185+1005C>A | |
| NM_173794.4:c.185+1005C>A MANE Select | NP_776155.1:n.185+1005C>A |