Linked Data
ClinVar Variation Id:
855024
ClinVar RCV Id:
RCV001060188
dbSNP Id:
rs781694580
ExAC:
17:4858418 A / G
gnomAD v2:
17-4858418-A-G
gnomAD v4:
17-4955123-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4955123A>G , CM000679.2:g.4955123A>G | GRCh38 |
| NC_000017.10:g.4858418A>G , CM000679.1:g.4858418A>G | GRCh37 |
| NC_000017.9:g.4799164A>G | NCBI36 |
| NG_012063.2:g.14033A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519602.6:c.493A>G MANE Select | ENSP00000430055.2:p.Met165Val | |
| ENST00000323997.10:c.493A>G | ENSP00000324105.6:p.Met165Val | |
| ENST00000518175.1:c.493A>G | ENSP00000431087.1:p.Met165Val | |
| ENST00000519584.5:c.364A>G | ENSP00000430636.1:p.Met122Val | |
| ENST00000519602.5:c.493A>G | ENSP00000430055.1:p.Met165Val | |
| ENST00000520221.5:c.493A>G | ENSP00000467444.1:p.Met165Val | |
| ENST00000521659.5:c.*439A>G | ENSP00000430554.1:n.*439A>G | |
| ENST00000522301.5:c.493A>G | ENSP00000465697.1:p.Met165Val | |
| NM_001193503.1:c.364A>G | NP_001180432.1:p.Met122Val | |
| NM_001976.4:c.493A>G | NP_001967.3:p.Met165Val | |
| NM_053013.3:c.493A>G | NP_443739.3:p.Met165Val | |
| XM_005256521.2:c.520A>G | XP_005256578.1:p.Met174Val | |
| XM_011523729.1:c.493A>G | XP_011522031.1:p.Met165Val | |
| XM_017024346.2:c.493A>G | XP_016879835.1:p.Met165Val | |
| NM_001193503.2:c.364A>G | NP_001180432.1:p.Met122Val | |
| NM_001374523.1:c.493A>G | NP_001361452.1:p.Met165Val | |
| NM_001374524.1:c.520A>G | NP_001361453.1:p.Met174Val | |
| NM_001976.5:c.493A>G | NP_001967.3:p.Met165Val | |
| NM_053013.4:c.493A>G MANE Select | NP_443739.3:p.Met165Val |