Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887188G>T , CM000681.2:g.12887188G>T | GRCh38 |
| NC_000019.9:g.12998002G>T , CM000681.1:g.12998002G>T | GRCh37 |
| NC_000019.8:g.12859002G>T | NCBI36 |
| NG_009292.1:g.1029G>T | |
| NG_013087.1:g.5016C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.-48C>A MANE Select | ENSP00000264834.3:n.-48C>A | |
| NM_006563.3:c.-48C>A | NP_006554.1:n.-48C>A | |
| NM_006563.4:c.-48C>A | NP_006554.1:n.-48C>A | |
| NM_006563.5:c.-48C>A MANE Select | NP_006554.1:n.-48C>A |