COSMIC:
COSM4000596 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18936747 (AFR)
Genomes Max Group AF
0.18768703 (AFR)
Exomes Max Group AF
0.18904234 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.19678719A>G , CM000681.2:g.19678719A>G | GRCh38 |
| NC_000019.9:g.19789528A>G , CM000681.1:g.19789528A>G | GRCh37 |
| NC_000019.8:g.19650528A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592502.2:c.131-7A>G MANE Select | ENSP00000468049.1:n.131-7A>G | |
| ENST00000318110.9:c.131-7A>G | ENSP00000319716.5:n.131-7A>G | |
| ENST00000415440.3:n.1847-7A>G | ||
| ENST00000415784.6:c.-230-7A>G | ENSP00000400952.2:n.-230-7A>G | |
| ENST00000444249.6:c.127-7A>G | ENSP00000466697.1:n.127-7A>G | |
| ENST00000541458.5:c.-230-7A>G | ENSP00000467112.1:n.-230-7A>G | |
| ENST00000592502.1:c.131-7A>G | ENSP00000468049.1:n.131-7A>G | |
| NM_001300949.1:c.-230-7A>G | NP_001287878.1:n.-230-7A>G | |
| NM_033204.3:c.131-7A>G | NP_149981.2:n.131-7A>G | |
| XM_006722942.2:c.131-7A>G | XP_006723005.1:n.131-7A>G | |
| XM_024451785.1:c.-230-7A>G | XP_024307553.1:n.-230-7A>G | |
| XM_024451786.1:c.-230-7A>G | XP_024307554.1:n.-230-7A>G | |
| XM_024451787.1:c.-230-7A>G | XP_024307555.1:n.-230-7A>G | |
| NM_033204.4:c.131-7A>G MANE Select | NP_149981.2:n.131-7A>G | |
| NM_001300949.2:c.-230-7A>G | NP_001287878.1:n.-230-7A>G |