Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114785311C>A , CM000671.2:g.114785311C>A | GRCh38 |
| NC_000009.11:g.117547591C>A , CM000671.1:g.117547591C>A | GRCh37 |
| NC_000009.10:g.116587412C>A | NCBI36 |
| NG_011488.2:g.25818G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374045.5:c.*5141G>T MANE Select | ENSP00000363157.3:n.*5141G>T | |
| ENST00000374045.4:c.*5141G>T | ENSP00000363157.3:n.*5141G>T | |
| NM_001204344.1:c.5720G>T | NP_001191273.1:n.5720G>T | |
| NM_005118.3:c.*5141G>T | NP_005109.2:n.*5141G>T | |
| NM_005118.4:c.*5141G>T MANE Select | NP_005109.2:n.*5141G>T |