COSMIC:
COSN19701364 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29049649 (SAS)
Genomes Max Group AF
0.24475493 (SAS)
Exomes Max Group AF
0.29247909 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32182519C>A , CM000668.2:g.32182519C>A | GRCh38 |
| NC_000006.11:g.32150296C>A , CM000668.1:g.32150296C>A | GRCh37 |
| NC_000006.10:g.32258274C>A | NCBI36 |
| NG_029868.1:g.6804G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375076.9:c.822+49G>T MANE Select | ENSP00000364217.4:n.822+49G>T | |
| ENST00000375055.6:c.822+49G>T | ENSP00000364195.2:n.822+49G>T | |
| ENST00000375065.6:c.9+49G>T | ENSP00000364206.6:n.9+49G>T | |
| ENST00000375067.7:c.809+20G>T | ENSP00000364208.3:n.809+20G>T | |
| ENST00000375069.7:c.870+49G>T | ENSP00000364210.4:n.870+49G>T | |
| ENST00000375070.7:c.519+49G>T | ENSP00000364211.4:n.519+49G>T | |
| ENST00000375076.8:c.822+49G>T | ENSP00000364217.4:n.822+49G>T | |
| ENST00000438221.6:c.870+49G>T | ENSP00000387887.2:n.870+49G>T | |
| ENST00000473619.5:n.364+49G>T | ||
| ENST00000484849.5:n.1029+49G>T | ||
| ENST00000488669.5:n.364+49G>T | ||
| ENST00000620802.4:c.283-1086G>T | ENSP00000484081.1:n.283-1086G>T | |
| NM_001136.4:c.822+49G>T | NP_001127.1:n.822+49G>T | |
| NM_001206929.1:c.870+49G>T | NP_001193858.1:n.870+49G>T | |
| NM_001206932.1:c.780+49G>T | NP_001193861.1:n.780+49G>T | |
| NM_001206934.1:c.870+49G>T | NP_001193863.1:n.870+49G>T | |
| NM_001206936.1:c.822+49G>T | NP_001193865.1:n.822+49G>T | |
| NM_001206940.1:c.822+49G>T | NP_001193869.1:n.822+49G>T | |
| NM_001206954.1:c.822+49G>T | NP_001193883.1:n.822+49G>T | |
| NM_001206966.1:c.822+49G>T | NP_001193895.1:n.822+49G>T | |
| NM_172197.2:c.809+20G>T | NP_751947.1:n.809+20G>T | |
| NR_038190.1:n.1105+49G>T | ||
| XM_017010328.2:c.963+49G>T | XP_016865817.1:n.963+49G>T | |
| XR_001743189.2:n.1028+49G>T | ||
| XR_001743190.2:n.980+49G>T | ||
| NM_001136.5:c.822+49G>T MANE Select | NP_001127.1:n.822+49G>T | |
| NM_001206932.2:c.780+49G>T | NP_001193861.1:n.780+49G>T | |
| NM_001206936.2:c.822+49G>T | NP_001193865.1:n.822+49G>T | |
| NM_001206940.2:c.822+49G>T | NP_001193869.1:n.822+49G>T | |
| NM_001206954.2:c.822+49G>T | NP_001193883.1:n.822+49G>T | |
| NM_001206966.2:c.822+49G>T | NP_001193895.1:n.822+49G>T | |
| NM_172197.3:c.809+20G>T | NP_751947.1:n.809+20G>T | |
| NR_038190.2:n.1036+49G>T | ||
| NM_001206929.2:c.870+49G>T | NP_001193858.1:n.870+49G>T | |
| NM_001206934.2:c.870+49G>T | NP_001193863.1:n.870+49G>T |