Linked Data
ClinVar Variation Id:
768483
ClinVar RCV Id:
RCV000947385
dbSNP Id:
rs11213935
ExAC:
11:111411608 G / A
gnomAD v2:
11-111411608-G-A
gnomAD v3:
11-111540883-G-A
gnomAD v4:
11-111540883-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111540883G>A , CM000673.2:g.111540883G>A | GRCh38 |
| NC_000011.9:g.111411608G>A , CM000673.1:g.111411608G>A | GRCh37 |
| NC_000011.8:g.110916818G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375614.7:c.40G>A MANE Select | ENSP00000364764.2:p.Val14Met | |
| ENST00000375614.6:c.40G>A | ENSP00000364764.2:p.Val14Met | |
| ENST00000375615.7:c.40G>A | ENSP00000364765.3:p.Val14Met | |
| ENST00000436913.6:c.-238G>A | ENSP00000392942.2:n.-238G>A | |
| ENST00000525126.5:c.40G>A | ENSP00000434328.1:p.Val14Met | |
| ENST00000525866.5:c.40G>A | ENSP00000434300.1:p.Val14Met | |
| ENST00000533265.5:c.40G>A | ENSP00000434972.1:p.Val14Met | |
| ENST00000533999.5:c.-348+549G>A | ENSP00000432434.1:n.-348+549G>A | |
| NM_001258390.1:c.40G>A | NP_001245319.1:p.Val14Met | |
| NM_001258391.1:c.-238G>A | NP_001245320.1:n.-238G>A | |
| NM_178834.4:c.40G>A | NP_849156.1:p.Val14Met | |
| XM_011542625.1:c.-348+549G>A | XP_011540927.1:n.-348+549G>A | |
| NM_001318799.1:c.-348+549G>A | NP_001305728.1:n.-348+549G>A | |
| NM_001258390.2:c.40G>A | NP_001245319.1:p.Val14Met | |
| NM_001258391.2:c.-238G>A | NP_001245320.1:n.-238G>A | |
| NM_178834.5:c.40G>A MANE Select | NP_849156.1:p.Val14Met |