gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83054521 (EAS)
Genomes Max Group AF
0.79301589 (EAS)
Exomes Max Group AF
0.83324571 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157052312G>C , CM000667.2:g.157052312G>C | GRCh38 |
| NC_000005.9:g.156479323G>C , CM000667.1:g.156479323G>C | GRCh37 |
| NC_000005.8:g.156411901G>C | NCBI36 |
| NG_017001.1:g.11648C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339252.8:c.673+49C>G | ENSP00000344844.3:n.673+49C>G | |
| ENST00000698790.1:c.673+49C>G | ENSP00000513932.1:n.673+49C>G | |
| ENST00000699093.1:c.673+49C>G | ENSP00000514125.1:n.673+49C>G | |
| ENST00000523175.6:c.673+49C>G MANE Select | ENSP00000427898.1:n.673+49C>G | |
| ENST00000339252.7:c.673+49C>G | ENSP00000344844.3:n.673+49C>G | |
| ENST00000522693.5:c.673+49C>G | ENSP00000428524.1:n.673+49C>G | |
| ENST00000523175.5:c.673+49C>G | ENSP00000427898.1:n.673+49C>G | |
| ENST00000625904.2:c.673+49C>G | ENSP00000487363.1:n.673+49C>G | |
| NM_001099414.1:c.673+49C>G | NP_001092884.1:n.673+49C>G | |
| NM_001173393.1:c.673+49C>G | NP_001166864.1:n.673+49C>G | |
| NM_001173393.2:c.673+49C>G | NP_001166864.1:n.673+49C>G | |
| NM_001308156.1:c.673+49C>G | NP_001295085.1:n.673+49C>G | |
| NM_012206.2:c.673+49C>G | NP_036338.2:n.673+49C>G | |
| NM_012206.3:c.673+49C>G | NP_036338.2:n.673+49C>G | |
| XM_006714840.2:c.673+49C>G | XP_006714903.1:n.673+49C>G | |
| XM_011534508.1:c.673+49C>G | XP_011532810.1:n.673+49C>G | |
| XM_011534509.1:c.673+49C>G | XP_011532811.1:n.673+49C>G | |
| XM_011534510.1:c.673+49C>G | XP_011532812.1:n.673+49C>G | |
| XM_011534511.1:c.673+49C>G | XP_011532813.1:n.673+49C>G | |
| XM_011534512.1:c.673+49C>G | XP_011532814.1:n.673+49C>G | |
| XM_011534513.1:c.673+49C>G | XP_011532815.1:n.673+49C>G | |
| XM_011534514.1:c.673+49C>G | XP_011532816.1:n.673+49C>G | |
| XM_011534515.1:c.202+49C>G | XP_011532817.1:n.202+49C>G | |
| XR_941098.1:n.1015+49C>G | ||
| XR_941099.1:n.1015+49C>G | ||
| XR_941100.1:n.1015+49C>G | ||
| XM_011534515.2:c.202+49C>G | XP_011532817.1:n.202+49C>G | |
| XM_017009339.2:c.673+49C>G | XP_016864828.1:n.673+49C>G | |
| XM_024446019.1:c.673+49C>G | XP_024301787.1:n.673+49C>G | |
| XM_024446020.1:c.673+49C>G | XP_024301788.1:n.673+49C>G | |
| XM_024446021.1:c.673+49C>G | XP_024301789.1:n.673+49C>G | |
| XM_024446022.1:c.673+49C>G | XP_024301790.1:n.673+49C>G | |
| XM_024446023.1:c.673+49C>G | XP_024301791.1:n.673+49C>G | |
| XM_024446024.1:c.673+49C>G | XP_024301792.1:n.673+49C>G | |
| NM_001173393.3:c.673+49C>G MANE Select | NP_001166864.1:n.673+49C>G | |
| NM_001308156.2:c.673+49C>G | NP_001295085.1:n.673+49C>G |