Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9215066C>T , CM000681.2:g.9215066C>T | GRCh38 |
| NC_000019.9:g.9325742C>T , CM000681.1:g.9325742C>T | GRCh37 |
| NC_000019.8:g.9186742C>T | NCBI36 |
| NG_027953.1:g.4806G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001005191.3:c.-13-216G>A MANE Select | NP_001005191.1:n.-13-216G>A |
| ENST00000641669.1:c.-13-216G>A MANE Select | ENSP00000493383.1:n.-13-216G>A |
| ENST00000641244.1:c.-16-213G>A | ENSP00000493404.1:n.-16-213G>A |