Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35681125C>A , CM000671.2:g.35681125C>A | GRCh38 |
| NC_000009.11:g.35681122C>A , CM000671.1:g.35681122C>A | GRCh37 |
| NC_000009.10:g.35671122C>A | NCBI36 |
| NG_011620.1:g.13933G>T , LRG_680:g.13933G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001216.3:c.*100C>A MANE Select | NP_001207.2:n.*100C>A |
| ENST00000378357.9:c.*100C>A MANE Select | ENSP00000367608.4:n.*100C>A |
| NM_001216.2:c.*100C>A | NP_001207.2:n.*100C>A |
| ENST00000378357.8:c.*100C>A | ENSP00000367608.4:n.*100C>A |
| ENST00000485665.1:n.295C>A | |
| ENST00000493245.1:n.684C>A | |
| ENST00000617161.1:c.*231C>A | ENSP00000482050.1:n.*231C>A |
| XR_001746374.2:n.1744C>A | |
| XR_428428.2:n.1437C>A | |
| XR_428428.3:n.1512C>A |