Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76138591C>T , CM000679.2:g.76138591C>T | GRCh38 |
| NC_000017.10:g.74134672C>T , CM000679.1:g.74134672C>T | GRCh37 |
| NC_000017.9:g.71646267C>T | NCBI36 |
| NG_013345.1:g.7709G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001454.4:c.499-471G>A MANE Select | NP_001445.2:n.499-471G>A |
| ENST00000322957.7:c.499-471G>A MANE Select | ENSP00000323880.4:n.499-471G>A |
| NM_001454.3:c.499-471G>A | NP_001445.2:n.499-471G>A |
| ENST00000322957.6:c.499-471G>A | ENSP00000323880.4:n.499-471G>A |