gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.54174021T>A , CM000680.2:g.54174021T>A | GRCh38 |
| NC_000018.9:g.51700391T>A , CM000680.1:g.51700391T>A | GRCh37 |
| NC_000018.8:g.49954389T>A | NCBI36 |
| NG_029550.1:g.55768A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256429.8:c.841-7855A>T MANE Select | ENSP00000256429.3:n.841-7855A>T | |
| ENST00000256429.7:c.841-7855A>T | ENSP00000256429.3:n.841-7855A>T | |
| ENST00000578272.1:c.287-7855A>T | ENSP00000462393.1:n.287-7855A>T | |
| NM_003927.4:c.841-7855A>T | NP_003918.1:n.841-7855A>T | |
| NM_003927.5:c.841-7855A>T MANE Select | NP_003918.1:n.841-7855A>T |