COSMIC:
COSM5020620 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1503848 (SAS)
Genomes Max Group AF
0.1466553 (SAS)
Exomes Max Group AF
0.15013864 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75582098A>G , CM000669.2:g.75582098A>G | GRCh38 |
| NC_000007.13:g.75211414A>G , CM000669.1:g.75211414A>G | GRCh37 |
| NC_000007.12:g.75049350A>G | NCBI36 |
| NG_023251.2:g.161864T>C | |
| NG_023251.3:g.161864T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336926.11:c.519T>C MANE Select | ENSP00000336747.6:p.Ala173= | |
| ENST00000336926.10:c.519T>C | ENSP00000336747.6:p.Ala173= | |
| ENST00000420909.1:c.432T>C | ENSP00000414280.1:p.Ala144= | |
| ENST00000434438.6:c.519T>C | ENSP00000410300.2:p.Ala173= | |
| ENST00000616821.4:c.432T>C | ENSP00000484528.1:p.Ala144= | |
| NM_001243198.2:c.519T>C | NP_001230127.1:p.Ala173= | |
| NM_005338.6:c.519T>C | NP_005329.3:p.Ala173= | |
| XM_005250304.2:c.432T>C | XP_005250361.1:p.Ala144= | |
| XM_005250305.2:c.417T>C | XP_005250362.1:p.Ala139= | |
| XM_011516116.1:c.519T>C | XP_011514418.1:p.Ala173= | |
| XM_011516116.2:c.519T>C | XP_011514418.1:p.Ala173= | |
| XM_017012099.1:c.477T>C | XP_016867588.1:p.Ala159= | |
| NM_005338.7:c.519T>C MANE Select | NP_005329.3:p.Ala173= | |
| NM_001243198.3:c.519T>C | NP_001230127.1:p.Ala173= | |
| NM_001382444.1:c.417T>C | NP_001369373.1:p.Ala139= | |
| NM_001382445.1:c.432T>C | NP_001369374.1:p.Ala144= |