COSMIC:
COSM3765530 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29672924 (AMR)
Genomes Max Group AF
0.2394043 (AMR)
Exomes Max Group AF
0.31468262 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.105029658C>T , CM000673.2:g.105029658C>T | GRCh38 |
| NC_000011.9:g.104900385C>T , CM000673.1:g.104900385C>T | GRCh37 |
| NC_000011.8:g.104405595C>T | NCBI36 |
| NG_029124.1:g.10473G>A | |
| NG_029124.2:g.10473G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525825.6:c.799+7G>A | ENSP00000434779.1:n.799+7G>A | |
| ENST00000532439.6:c.420+7G>A | ||
| ENST00000695714.1:c.*350+7G>A | ENSP00000512113.1:n.*350+7G>A | |
| ENST00000695715.1:c.745+7G>A | ENSP00000512114.1:n.745+7G>A | |
| ENST00000695716.1:c.*572+7G>A | ENSP00000512253.1:n.*572+7G>A | |
| ENST00000695717.1:c.745+7G>A | ENSP00000512115.1:n.745+7G>A | |
| ENST00000695718.1:c.745+7G>A | ENSP00000512116.1:n.745+7G>A | |
| ENST00000695719.1:c.799+7G>A | ENSP00000512117.1:n.799+7G>A | |
| ENST00000695720.1:c.862+7G>A | ENSP00000512118.1:n.862+7G>A | |
| ENST00000695721.1:c.745+7G>A | ENSP00000512119.1:n.745+7G>A | |
| ENST00000695722.1:c.745+7G>A | ENSP00000512120.1:n.745+7G>A | |
| ENST00000533400.6:c.862+7G>A MANE Select | ENSP00000433138.1:n.862+7G>A | |
| ENST00000353247.9:c.59-2707G>A | ENSP00000344132.5:n.59-2707G>A | |
| ENST00000436863.7:c.862+7G>A | ENSP00000410076.3:n.862+7G>A | |
| ENST00000446369.5:c.583+7G>A | ENSP00000403260.1:n.583+7G>A | |
| ENST00000525825.5:c.799+7G>A | ENSP00000434779.1:n.799+7G>A | |
| ENST00000526568.5:c.583+7G>A | ENSP00000434250.1:n.583+7G>A | |
| ENST00000527979.5:c.751+7G>A | ENSP00000432340.1:n.751+7G>A | |
| ENST00000528974.1:c.745+7G>A | ENSP00000434259.1:n.745+7G>A | |
| ENST00000529871.1:c.*350+7G>A | ENSP00000431947.1:n.*350+7G>A | |
| ENST00000531166.5:c.59-2707G>A | ENSP00000434303.1:n.59-2707G>A | |
| ENST00000532439.5:c.409+7G>A | ENSP00000435536.1:n.409+7G>A | |
| ENST00000533400.5:c.862+7G>A | ENSP00000433138.1:n.862+7G>A | |
| ENST00000534497.5:c.583+7G>A | ENSP00000436875.1:n.583+7G>A | |
| NM_001223.4:c.799+7G>A | NP_001214.1:n.799+7G>A | |
| NM_001257118.2:c.862+7G>A | NP_001244047.1:n.862+7G>A | |
| NM_001257119.2:c.799+7G>A | NP_001244048.1:n.799+7G>A | |
| NM_033292.3:c.862+7G>A | NP_150634.1:n.862+7G>A | |
| NM_033293.3:c.583+7G>A | NP_150635.1:n.583+7G>A | |
| NM_033294.3:c.583+7G>A | NP_150636.1:n.583+7G>A | |
| NM_033295.3:c.59-2707G>A | NP_150637.1:n.59-2707G>A | |
| XM_006718924.2:c.994+7G>A | XP_006718987.2:n.994+7G>A | |
| XM_011543017.1:c.994+7G>A | XP_011541319.1:n.994+7G>A | |
| XM_011543018.1:c.931+7G>A | XP_011541320.1:n.931+7G>A | |
| XM_017018393.1:c.853+7G>A | XP_016873882.1:n.853+7G>A | |
| XM_017018394.1:c.853+7G>A | XP_016873883.1:n.853+7G>A | |
| XM_017018395.1:c.790+7G>A | XP_016873884.1:n.790+7G>A | |
| XM_017018396.1:c.772+7G>A | XP_016873885.1:n.772+7G>A | |
| NM_001257118.3:c.862+7G>A MANE Select | NP_001244047.1:n.862+7G>A | |
| NM_001223.5:c.799+7G>A | NP_001214.1:n.799+7G>A | |
| NM_001257119.3:c.799+7G>A | NP_001244048.1:n.799+7G>A | |
| NM_033292.4:c.862+7G>A | NP_150634.1:n.862+7G>A | |
| NM_033293.4:c.583+7G>A | NP_150635.1:n.583+7G>A | |
| NM_033294.4:c.583+7G>A | NP_150636.1:n.583+7G>A | |
| NM_033295.4:c.59-2707G>A | NP_150637.1:n.59-2707G>A |