Linked Data
ClinVar Variation Id:
2348051
ClinVar RCV Id:
RCV004182667
dbSNP Id:
rs944073212
gnomAD v2:
14-39650273-A-G
gnomAD v3:
14-39181069-A-G
gnomAD v4:
14-39181069-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.39181069A>G , CM000676.2:g.39181069A>G | GRCh38 |
| NC_000014.8:g.39650273A>G , CM000676.1:g.39650273A>G | GRCh37 |
| NC_000014.7:g.38720024A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216832.9:c.1360A>G MANE Select | ENSP00000216832.4:p.Met454Val | |
| ENST00000216832.8:c.1360A>G | ENSP00000216832.4:p.Met454Val | |
| ENST00000557680.1:n.470+393A>G | ||
| NM_002687.3:c.1360A>G | NP_002678.2:p.Met454Val | |
| NM_002687.4:c.1360A>G MANE Select | NP_002678.3:p.Met454Val |