Linked Data
ClinVar Variation Id:
2363639
ClinVar RCV Id:
RCV004201804
dbSNP Id:
rs761265704
ExAC:
14:20924971 G / A
gnomAD v2:
14-20924971-G-A
gnomAD v3:
14-20456812-G-A
gnomAD v4:
14-20456812-G-A
COSMIC:
COSM2029130
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20456812G>A , CM000676.2:g.20456812G>A | GRCh38 |
| NC_000014.8:g.20924971G>A , CM000676.1:g.20924971G>A | GRCh37 |
| NC_000014.7:g.19994811G>A | NCBI36 |
| NG_008718.1:g.6682G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216714.8:c.391G>A MANE Select | ENSP00000216714.3:p.Val131Met | |
| ENST00000216714.7:c.391G>A | ENSP00000216714.3:p.Val131Met | |
| ENST00000398030.8:c.391G>A | ENSP00000381111.4:p.Val131Met | |
| ENST00000438886.1:c.240G>A | ||
| ENST00000553555.5:n.811G>A | ||
| ENST00000553681.5:c.391G>A | ENSP00000451327.1:p.Val131Met | |
| ENST00000554813.5:n.457G>A | ||
| ENST00000555306.5:n.838G>A | ||
| ENST00000555414.5:c.391G>A | ENSP00000451979.1:p.Val131Met | |
| ENST00000555839.5:c.391G>A | ENSP00000452460.1:p.Val131Met | |
| ENST00000556054.5:c.391G>A | ENSP00000451170.1:p.Val131Met | |
| ENST00000557054.1:c.28-311G>A | ENSP00000452212.2:n.28-311G>A | |
| ENST00000557150.5:c.340G>A | ENSP00000452418.1:p.Val114Met | |
| ENST00000557159.5:n.1007G>A | ||
| ENST00000557344.5:c.391G>A | ENSP00000452137.1:p.Val131Met | |
| ENST00000557365.1:n.471G>A | ||
| ENST00000557592.5:c.340G>A | ENSP00000451060.1:p.Val114Met | |
| NM_001244249.1:c.391G>A | NP_001231178.1:p.Val131Met | |
| NM_001641.3:c.391G>A | NP_001632.2:p.Val131Met | |
| NM_080648.2:c.391G>A | NP_542379.1:p.Val131Met | |
| NM_080649.2:c.391G>A | NP_542380.1:p.Val131Met | |
| XM_005267581.3:c.391G>A | XP_005267638.1:p.Val131Met | |
| XM_005267582.3:c.340G>A | XP_005267639.1:p.Val114Met | |
| NM_001641.4:c.391G>A MANE Select | NP_001632.2:p.Val131Met | |
| NM_001244249.2:c.391G>A | NP_001231178.1:p.Val131Met | |
| NM_080648.3:c.391G>A | NP_542379.1:p.Val131Met | |
| NM_080649.3:c.391G>A | NP_542380.1:p.Val131Met |