Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75473451A>T , CM000678.2:g.75473451A>T | GRCh38 |
| NC_000016.9:g.75507349A>T , CM000678.1:g.75507349A>T | GRCh37 |
| NC_000016.8:g.74064850A>T | NCBI36 |
| NG_016442.1:g.26578T>A | |
| NG_016442.2:g.26991T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332272.9:c.*5190T>A MANE Select | ENSP00000328983.4:n.*5190T>A | |
| ENST00000649341.1:c.*125T>A | ENSP00000497635.1:n.*125T>A | |
| ENST00000649824.1:c.*615T>A | ENSP00000496806.1:n.*615T>A | |
| ENST00000332272.8:c.*5190T>A | ENSP00000328983.4:n.*5190T>A | |
| NM_021615.4:c.*5190T>A | NP_067628.1:n.*5190T>A | |
| NM_021615.5:c.*5190T>A MANE Select | NP_067628.1:n.*5190T>A | |
| NR_163480.1:n.750T>A | ||
| NR_163481.1:n.594T>A |