COSMIC:
COSM3762819 (not active)
Revel Score:
ENST00000414749
0.087
ENST00000429400
0.087
ENST00000313375 (MANE Select)
0.087
ENST00000354613
0.087
ENST00000395189
0.087
ENST00000434326
0.087
ENST00000453275
0.087
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1409908 (MID)
Genomes Max Group AF
0.12414429 (NFE)
Exomes Max Group AF
0.14186677 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73597712G>A , CM000669.2:g.73597712G>A | GRCh38 |
| NC_000007.13:g.73012042G>A , CM000669.1:g.73012042G>A | GRCh37 |
| NC_000007.12:g.72649978G>A | NCBI36 |
| NG_009307.1:g.31829C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313375.8:c.1073C>T MANE Select | ENSP00000320886.3:p.Ala358Val | |
| ENST00000313375.7:c.1073C>T | ENSP00000320886.3:p.Ala358Val | |
| ENST00000345114.9:c.1073C>T | ENSP00000343767.5:p.Ala358Val | |
| ENST00000354613.5:c.1073C>T | ENSP00000346629.1:p.Ala358Val | |
| ENST00000414749.6:c.1073C>T | ENSP00000412330.2:p.Ala358Val | |
| ENST00000429400.6:c.1073C>T | ENSP00000406296.2:p.Ala358Val | |
| ENST00000434326.5:c.794C>T | ENSP00000392636.1:p.Ala265Val | |
| ENST00000453275.1:c.572C>T | ENSP00000395172.1:p.Ala191Val | |
| ENST00000476404.5:n.1168C>T | ||
| NM_032951.2:c.1073C>T | NP_116569.1:p.Ala358Val | |
| NM_032952.2:c.1073C>T | NP_116570.1:p.Ala358Val | |
| NM_032953.2:c.1073C>T | NP_116571.1:p.Ala358Val | |
| NM_032954.2:c.1073C>T | NP_116572.1:p.Ala358Val | |
| XM_011516277.1:c.1268C>T | XP_011514579.1:p.Ala423Val | |
| XM_011516278.1:c.1268C>T | XP_011514580.1:p.Ala423Val | |
| XM_011516279.1:c.1268C>T | XP_011514581.1:p.Ala423Val | |
| XM_011516280.1:c.572C>T | XP_011514582.1:p.Ala191Val | |
| XM_011516281.1:c.245C>T | XP_011514583.1:p.Ala82Val | |
| XR_927474.1:n.1298C>T | ||
| XR_927475.1:n.1103C>T | ||
| NR_134541.1:n.1124C>T | ||
| XM_011516281.2:c.245C>T | XP_011514583.1:p.Ala82Val | |
| XM_017012263.1:c.164C>T | XP_016867752.1:p.Ala55Val | |
| XM_024446784.1:c.245C>T | XP_024302552.1:p.Ala82Val | |
| XR_001744799.1:n.1298C>T | ||
| NM_032951.3:c.1073C>T MANE Select | NP_116569.1:p.Ala358Val | |
| NM_032952.3:c.1073C>T | NP_116570.1:p.Ala358Val | |
| NM_032953.3:c.1073C>T | NP_116571.1:p.Ala358Val | |
| NM_032954.3:c.1073C>T | NP_116572.1:p.Ala358Val | |
| NR_134541.2:n.1103C>T |