COSMIC:
COSN14895881 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65363992 (SAS)
Genomes Max Group AF
0.65363992 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120889023T>C , CM000671.2:g.120889023T>C | GRCh38 |
| NC_000009.11:g.123651301T>C , CM000671.1:g.123651301T>C | GRCh37 |
| NC_000009.10:g.122691122T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616568.5:c.42+5765A>G | ENSP00000483946.1:n.42+5765A>G | |
| ENST00000616568.4:c.42+5765A>G | ENSP00000483946.1:n.42+5765A>G | |
| NM_001286840.1:c.42+5765A>G | NP_001273769.1:n.42+5765A>G | |
| XM_011518511.1:c.42+5765A>G | XP_011516813.1:n.42+5765A>G | |
| XM_011518513.1:c.-347+5765A>G | XP_011516815.1:n.-347+5765A>G | |
| XM_011518515.1:c.42+5765A>G | XP_011516817.1:n.42+5765A>G | |
| XM_011518516.1:c.42+5765A>G | XP_011516818.1:n.42+5765A>G | |
| XR_929758.1:n.63+5765A>G | ||
| XR_929759.1:n.63+5765A>G | ||
| XM_011518511.2:c.42+5765A>G | XP_011516813.1:n.42+5765A>G | |
| XM_011518515.2:c.42+5765A>G | XP_011516817.1:n.42+5765A>G | |
| XM_011518516.2:c.42+5765A>G | XP_011516818.1:n.42+5765A>G | |
| XM_017014612.2:c.-16+12867A>G | XP_016870101.1:n.-16+12867A>G | |
| XM_017014613.1:c.42+5765A>G | XP_016870102.1:n.42+5765A>G | |
| XM_024447505.1:c.-347+5765A>G | XP_024303273.1:n.-347+5765A>G | |
| XR_929758.3:n.573+5765A>G |