gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31526274G>C , CM000664.2:g.31526274G>C | GRCh38 |
| NC_000002.11:g.31751344G>C , CM000664.1:g.31751344G>C | GRCh37 |
| NC_000002.10:g.31604848G>C | NCBI36 |
| NG_008365.1:g.59698C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.699-12C>G MANE Select | ENSP00000477587.1:n.699-12C>G | |
| ENST00000622030.1:c.699-12C>G | ENSP00000477587.1:n.699-12C>G | |
| NM_000348.3:c.699-12C>G | NP_000339.2:n.699-12C>G | |
| XM_011533069.1:c.477-12C>G | XP_011531371.1:n.477-12C>G | |
| XM_011533070.1:c.444-12C>G | XP_011531372.1:n.444-12C>G | |
| XM_011533071.1:c.444-12C>G | XP_011531373.1:n.444-12C>G | |
| XM_011533072.1:c.444-12C>G | XP_011531374.1:n.444-12C>G | |
| XM_011533069.2:c.477-12C>G | XP_011531371.1:n.477-12C>G | |
| XM_011533072.2:c.444-12C>G | XP_011531374.1:n.444-12C>G | |
| NM_000348.4:c.699-12C>G MANE Select | NP_000339.2:n.699-12C>G |