gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37877816 (EAS)
Genomes Max Group AF
0.37877816 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.246059818C>T , CM000663.2:g.246059818C>T | GRCh38 |
| NC_000001.10:g.246223120C>T , CM000663.1:g.246223120C>T | GRCh37 |
| NC_000001.9:g.244289743C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490107.6:c.532-129881G>A MANE Select | ENSP00000419184.2:n.532-129881G>A | |
| ENST00000391836.3:c.-37+126925G>A | ENSP00000375712.2:n.-37+126925G>A | |
| ENST00000453676.5:c.355-129881G>A | ENSP00000408122.1:n.355-129881G>A | |
| ENST00000462422.5:n.459-6749G>A | ||
| ENST00000464398.1:n.180+36426G>A | ||
| ENST00000490107.5:c.532-129881G>A | ENSP00000419184.2:n.532-129881G>A | |
| ENST00000492487.5:n.92-129881G>A | ||
| ENST00000630181.2:c.355-129881G>A | ENSP00000487434.1:n.355-129881G>A | |
| NM_001167740.1:c.532-129881G>A | NP_001161212.1:n.532-129881G>A | |
| NM_022743.2:c.355-129881G>A | NP_073580.1:n.355-129881G>A | |
| XM_011544253.1:c.532-129881G>A | XP_011542555.1:n.532-129881G>A | |
| XM_011544254.1:c.105+48262G>A | XP_011542556.1:n.105+48262G>A | |
| XM_011544255.1:c.60+124598G>A | XP_011542557.1:n.60+124598G>A | |
| XM_011544256.1:c.25-129881G>A | XP_011542558.1:n.25-129881G>A | |
| XM_011544258.1:c.-37+126925G>A | XP_011542560.1:n.-37+126925G>A | |
| XM_011544261.1:c.-37+116647G>A | XP_011542563.1:n.-37+116647G>A | |
| XR_949153.1:n.633-129881G>A | ||
| XM_011544254.2:c.105+48262G>A | XP_011542556.1:n.105+48262G>A | |
| XM_011544258.2:c.-37+126925G>A | XP_011542560.1:n.-37+126925G>A | |
| XM_011544261.3:c.-37+116647G>A | XP_011542563.1:n.-37+116647G>A | |
| XM_017002094.2:c.-36-129881G>A | XP_016857583.1:n.-36-129881G>A | |
| XM_024449136.1:c.355-129881G>A | XP_024304904.1:n.355-129881G>A | |
| XM_024449137.1:c.355-129881G>A | XP_024304905.1:n.355-129881G>A | |
| XM_024449149.1:c.-37+75357G>A | XP_024304917.1:n.-37+75357G>A | |
| XM_024449162.1:c.-36-129881G>A | XP_024304930.1:n.-36-129881G>A | |
| NM_001167740.2:c.532-129881G>A MANE Select | NP_001161212.1:n.532-129881G>A | |
| NM_001375962.1:c.532-129881G>A | NP_001362891.1:n.532-129881G>A | |
| NM_001375963.1:c.355-129881G>A | NP_001362892.1:n.355-129881G>A | |
| NM_022743.3:c.355-129881G>A | NP_073580.1:n.355-129881G>A |