Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134842304G>T , CM000671.2:g.134842304G>T | GRCh38 |
| NC_000009.11:g.137734150G>T , CM000671.1:g.137734150G>T | GRCh37 |
| NC_000009.10:g.136873971G>T | NCBI36 |
| NG_008030.1:g.205499G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.*1G>T | ENSP00000360885.4:n.*1G>T | |
| ENST00000371817.8:c.*1G>T MANE Select | ENSP00000360882.3:n.*1G>T | |
| ENST00000371817.7:c.*1G>T | ENSP00000360882.3:n.*1G>T | |
| ENST00000618395.4:c.*1G>T | ENSP00000481360.1:n.*1G>T | |
| NM_000093.4:c.*1G>T | NP_000084.3:n.*1G>T | |
| NM_001278074.1:c.*1G>T | NP_001265003.1:n.*1G>T | |
| NR_103451.2:n.71-22095C>A | ||
| NM_000093.5:c.*1G>T MANE Select | NP_000084.3:n.*1G>T |