Linked Data
ClinVar Variation Id:
284072
dbSNP Id:
rs115784602
ExAC:
6:24520719 G / A
gnomAD v2:
6-24520719-G-A
gnomAD v3:
6-24520491-G-A
gnomAD v4:
6-24520491-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24520491G>A , CM000668.2:g.24520491G>A | GRCh38 |
| NC_000006.11:g.24520719G>A , CM000668.1:g.24520719G>A | GRCh37 |
| NC_000006.10:g.24628698G>A | NCBI36 |
| NG_008161.1:g.30523G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.961G>A MANE Select | ENSP00000350191.3:p.Val321Met | |
| ENST00000672352.1:c.580G>A | ENSP00000500876.1:p.Val194Met | |
| ENST00000672619.1:n.321G>A | ||
| ENST00000672652.1:c.924G>A | ||
| ENST00000348925.2:c.1000G>A | ENSP00000314649.3:p.Val334Met | |
| ENST00000357578.7:c.961G>A | ENSP00000350191.3:p.Val321Met | |
| ENST00000491546.5:c.877G>A | ENSP00000417687.1:p.Val293Met | |
| NM_001080.3:c.961G>A MANE Select | NP_001071.1:p.Val321Met | |
| NM_170740.1:c.1000G>A | NP_733936.1:p.Val334Met | |
| NM_001368954.1:c.817G>A | NP_001355883.1:p.Val273Met |