dbSNP:
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.43020345C>G , CM000666.2:g.43020345C>G | GRCh38 |
| NC_000004.11:g.43022362C>G , CM000666.1:g.43022362C>G | GRCh37 |
| NC_000004.10:g.42717119C>G | NCBI36 |
| NG_027718.1:g.132080C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.628-9C>G MANE Select | ENSP00000382670.2:n.628-9C>G | |
| ENST00000399770.2:c.628-9C>G | ENSP00000382670.2:n.628-9C>G | |
| NM_001080476.2:c.628-9C>G | NP_001073945.1:n.628-9C>G | |
| XM_011513691.1:c.265-9C>G | XP_011511993.1:n.265-9C>G | |
| NM_001080476.3:c.628-9C>G MANE Select | NP_001073945.1:n.628-9C>G |