COSMIC:
COSM3765688 (not active)
COSM3765689 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40353017 (SAS)
Genomes Max Group AF
0.39115938 (SAS)
Exomes Max Group AF
0.40348188 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28319505A>G , CM000675.2:g.28319505A>G | GRCh38 |
| NC_000013.10:g.28893642A>G , CM000675.1:g.28893642A>G | GRCh37 |
| NC_000013.9:g.27791642A>G | NCBI36 |
| NG_012003.1:g.180624T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706527.1:n.1029T>C | ||
| ENST00000282397.9:c.3204T>C MANE Select | ENSP00000282397.4:p.Pro1068= | |
| ENST00000282397.8:c.3204T>C | ENSP00000282397.4:p.Pro1068= | |
| ENST00000540678.2:c.-556T>C | ENSP00000443311.2:n.-556T>C | |
| ENST00000543394.2:c.273T>C | ENSP00000437841.1:p.Pro91= | |
| ENST00000615611.4:c.489T>C | ENSP00000484385.1:p.Pro163= | |
| NM_002019.4:c.3204T>C MANE Select | NP_002010.2:p.Pro1068= | |
| XR_941798.1:n.917+5725A>G | ||
| XM_017020485.1:c.3090T>C | XP_016875974.1:p.Pro1030= |