Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424609G>T , CM000681.2:g.41424609G>T | GRCh38 |
| NC_000019.9:g.41930514G>T , CM000681.1:g.41930514G>T | GRCh37 |
| NC_000019.8:g.46622354G>T | NCBI36 |
| NG_013004.1:g.31821G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.*1G>T MANE Select | ENSP00000269980.2:n.*1G>T | |
| ENST00000269980.6:c.*1G>T | ENSP00000269980.2:n.*1G>T | |
| ENST00000457836.6:c.*1G>T | ENSP00000416000.2:n.*1G>T | |
| ENST00000540732.3:c.*1G>T | ENSP00000443246.1:n.*1G>T | |
| ENST00000544905.1:c.169G>T | ||
| ENST00000595085.5:c.922+1912G>T | ENSP00000471150.2:n.922+1912G>T | |
| NM_000709.3:c.*1G>T | NP_000700.1:n.*1G>T | |
| NM_001164783.1:c.*1G>T | NP_001158255.1:n.*1G>T | |
| NM_000709.4:c.*1G>T MANE Select | NP_000700.1:n.*1G>T | |
| NM_001164783.2:c.*1G>T | NP_001158255.1:n.*1G>T |