Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.113878447A>T , CM000669.2:g.113878447A>T | GRCh38 |
| NC_000007.13:g.113518502A>T , CM000669.1:g.113518502A>T | GRCh37 |
| NC_000007.12:g.113305738A>T | NCBI36 |
| NG_012116.1:g.45581T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002711.4:c.2645T>A MANE Select | NP_002702.2:p.Leu882His |
| ENST00000284601.4:c.2645T>A MANE Select | ENSP00000284601.3:p.Leu882His |
| NM_002711.3:c.2645T>A | NP_002702.2:p.Leu882His |
| ENST00000284601.3:c.2645T>A | ENSP00000284601.3:p.Leu882His |
| XM_005250473.2:c.2042T>A | XP_005250530.1:p.Leu681His |
| XM_005250473.3:c.2042T>A | XP_005250530.1:p.Leu681His |