Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52809377C>T , CM000674.2:g.52809377C>T | GRCh38 |
| NC_000012.11:g.53203161C>T , CM000674.1:g.53203161C>T | GRCh37 |
| NC_000012.10:g.51489428C>T | NCBI36 |
| NG_007380.1:g.10175G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.2:c.834+6G>A MANE Select | ENSP00000448220.1:n.834+6G>A | |
| ENST00000548097.5:c.*346+6G>A | ENSP00000449755.1:n.*346+6G>A | |
| ENST00000549295.1:n.274G>A | ||
| ENST00000551956.1:c.834+6G>A | ENSP00000448220.1:n.834+6G>A | |
| NM_002272.3:c.834+6G>A | NP_002263.3:n.834+6G>A | |
| NM_002272.4:c.834+6G>A MANE Select | NP_002263.3:n.834+6G>A |