Linked Data
ClinVar Variation Id:
474091
ClinVar RCV Id:
RCV001513164
dbSNP Id:
rs35042144
ExAC:
20:17479659 T / C
gnomAD v2:
20-17479659-T-C
gnomAD v3:
20-17499014-T-C
gnomAD v4:
20-17499014-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.17499014T>C , CM000682.2:g.17499014T>C | GRCh38 |
| NC_000020.10:g.17479659T>C , CM000682.1:g.17479659T>C | GRCh37 |
| NC_000020.9:g.17427659T>C | NCBI36 |
| NG_012423.2:g.75207A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377873.8:c.762A>G MANE Select | ENSP00000367104.3:p.Lys254= | |
| ENST00000536626.7:c.345A>G | ENSP00000442522.1:p.Lys115= | |
| ENST00000377868.6:c.387A>G | ENSP00000367099.2:p.Lys129= | |
| ENST00000377873.7:c.762A>G | ENSP00000367104.3:p.Lys254= | |
| ENST00000536626.5:c.345A>G | ENSP00000442522.1:p.Lys115= | |
| NM_001161705.1:c.387A>G | NP_001155177.1:p.Lys129= | |
| NM_001195.4:c.762A>G | NP_001186.1:p.Lys254= | |
| NM_001278606.1:c.345A>G | NP_001265535.1:p.Lys115= | |
| NM_001278607.1:c.429A>G | NP_001265536.1:p.Lys143= | |
| NM_001278608.1:c.345A>G | NP_001265537.1:p.Lys115= | |
| XM_011529312.1:c.345A>G | XP_011527614.1:p.Lys115= | |
| XM_017028005.2:c.654A>G | XP_016883494.1:p.Lys218= | |
| NM_001195.5:c.762A>G MANE Select | NP_001186.1:p.Lys254= | |
| NM_001161705.2:c.387A>G | NP_001155177.1:p.Lys129= | |
| NM_001278606.2:c.345A>G | NP_001265535.1:p.Lys115= | |
| NM_001278607.2:c.429A>G | NP_001265536.1:p.Lys143= | |
| NM_001278608.2:c.345A>G | NP_001265537.1:p.Lys115= |