COSMIC:
COSN19624435 (not active)
COSN20280722 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24211203 (EAS)
Genomes Max Group AF
0.25210453 (EAS)
Exomes Max Group AF
0.23955744 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24376196G>T , CM000676.2:g.24376196G>T | GRCh38 |
| NC_000014.8:g.24845402G>T , CM000676.1:g.24845402G>T | GRCh37 |
| NC_000014.7:g.23915242G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250373.9:c.2056+95G>T MANE Select | ENSP00000250373.4:n.2056+95G>T | |
| ENST00000250373.8:c.2056+95G>T | ENSP00000250373.4:n.2056+95G>T | |
| ENST00000413692.6:c.2245+95G>T | ENSP00000388910.2:n.2245+95G>T | |
| ENST00000422617.7:c.2020+95G>T | ENSP00000396788.3:n.2020+95G>T | |
| ENST00000424781.6:c.2095+95G>T | ENSP00000388668.2:n.2095+95G>T | |
| ENST00000539237.6:c.2152+95G>T | ENSP00000439350.2:n.2152+95G>T | |
| ENST00000553469.5:c.2152+95G>T | ENSP00000451502.1:n.2152+95G>T | |
| ENST00000553708.5:c.2056+95G>T | ENSP00000450590.1:n.2056+95G>T | |
| ENST00000553879.5:c.1846+95G>T | ENSP00000452349.1:n.1846+95G>T | |
| ENST00000554050.5:c.2056+95G>T | ENSP00000451151.1:n.2056+95G>T | |
| ENST00000554344.5:c.1846+95G>T | ENSP00000450469.1:n.1846+95G>T | |
| ENST00000554473.5:c.661+95G>T | ENSP00000450810.1:n.661+95G>T | |
| ENST00000554591.5:c.2245+95G>T | ENSP00000452039.1:n.2245+95G>T | |
| ENST00000554655.5:n.2712+95G>T | ||
| ENST00000554661.5:c.1846+95G>T | ENSP00000450733.1:n.1846+95G>T | |
| ENST00000554966.5:c.2095+95G>T | ENSP00000450644.1:n.2095+95G>T | |
| ENST00000555167.1:c.661+95G>T | ENSP00000451395.1:n.661+95G>T | |
| ENST00000555393.5:c.-81+95G>T | ENSP00000451801.1:n.-81+95G>T | |
| ENST00000555453.5:c.2020+95G>T | ENSP00000450686.1:n.2020+95G>T | |
| ENST00000555590.5:c.2095+95G>T | ENSP00000451224.1:n.2095+95G>T | |
| ENST00000555802.1:c.-81+95G>T | ENSP00000451590.1:n.-81+95G>T | |
| ENST00000555821.1:n.28+95G>T | ||
| ENST00000556169.5:c.2020+95G>T | ENSP00000451454.1:n.2020+95G>T | |
| ENST00000556279.5:c.2152+95G>T | ENSP00000452270.1:n.2152+95G>T | |
| ENST00000556759.5:c.661+95G>T | ENSP00000451183.1:n.661+95G>T | |
| ENST00000557451.5:c.1846+95G>T | ENSP00000451284.1:n.1846+95G>T | |
| ENST00000557767.5:c.-81+95G>T | ENSP00000451496.1:n.-81+95G>T | |
| NM_001136022.2:c.2245+95G>T | NP_001129494.1:n.2245+95G>T | |
| NM_001198965.1:c.2056+95G>T | NP_001185894.1:n.2056+95G>T | |
| NM_001198966.2:c.1846+95G>T | NP_001185895.1:n.1846+95G>T | |
| NM_001198967.2:c.2245+95G>T | NP_001185896.1:n.2245+95G>T | |
| NM_001288802.1:c.2020+95G>T | NP_001275731.1:n.2020+95G>T | |
| NM_004554.4:c.2056+95G>T | NP_004545.2:n.2056+95G>T | |
| XM_011536797.1:c.2020+95G>T | XP_011535099.1:n.2020+95G>T | |
| XM_011536798.1:c.1987+95G>T | XP_011535100.1:n.1987+95G>T | |
| XM_011536799.1:c.2020+95G>T | XP_011535101.1:n.2020+95G>T | |
| NM_001288802.2:c.2020+95G>T | NP_001275731.1:n.2020+95G>T | |
| NM_001320043.1:c.2245+95G>T | NP_001306972.1:n.2245+95G>T | |
| NM_001363681.1:c.2020+95G>T | NP_001350610.1:n.2020+95G>T | |
| NM_001363682.1:c.2020+95G>T | NP_001350611.1:n.2020+95G>T | |
| NM_004554.5:c.2056+95G>T MANE Select | NP_004545.2:n.2056+95G>T | |
| NM_001198965.2:c.2056+95G>T | NP_001185894.1:n.2056+95G>T | |
| NM_001136022.3:c.2245+95G>T | NP_001129494.1:n.2245+95G>T | |
| NM_001198967.3:c.2245+95G>T | NP_001185896.1:n.2245+95G>T | |
| NM_001320043.2:c.2245+95G>T | NP_001306972.1:n.2245+95G>T |