gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134351537C>G , CM000671.2:g.134351537C>G | GRCh38 |
| NC_000009.11:g.137243383C>G , CM000671.1:g.137243383C>G | GRCh37 |
| NC_000009.10:g.136383204C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.28+24878C>G MANE Select | ENSP00000419692.1:n.28+24878C>G | |
| ENST00000481739.1:c.28+24878C>G | ENSP00000419692.1:n.28+24878C>G | |
| ENST00000484822.1:n.452+32053C>G | ||
| NM_002957.5:c.28+24878C>G | NP_002948.1:n.28+24878C>G | |
| NM_002957.6:c.28+24878C>G MANE Select | NP_002948.1:n.28+24878C>G |