Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6594936G>A , CM000671.2:g.6594936G>A | GRCh38 |
| NC_000009.11:g.6594936G>A , CM000671.1:g.6594936G>A | GRCh37 |
| NC_000009.10:g.6584936G>A | NCBI36 |
| NG_016397.1:g.55757C>T , LRG_643:g.55757C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1261+78C>T MANE Select | ENSP00000370737.4:n.1261+78C>T | |
| ENST00000639364.1:n.961+78C>T | ||
| ENST00000639443.1:n.829+78C>T | ||
| ENST00000639493.1:n.413+78C>T | ||
| ENST00000639954.1:n.969+78C>T | ||
| ENST00000640592.1:n.1144+78C>T | ||
| ENST00000321612.6:c.1261+78C>T | ENSP00000370737.3:n.1261+78C>T | |
| ENST00000463305.1:n.345+78C>T | ||
| NM_000170.2:c.1261+78C>T , LRG_643t1:c.1261+78C>T | NP_000161.2:n.1261+78C>T | |
| NM_000170.3:c.1261+78C>T MANE Select | NP_000161.2:n.1261+78C>T |