Linked Data
ClinVar Variation Id:
415258
dbSNP Id:
rs201971719
ExAC:
11:118037635 G / A
gnomAD v2:
11-118037635-G-A
gnomAD v3:
11-118166920-G-A
gnomAD v4:
11-118166920-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118166920G>A , CM000673.2:g.118166920G>A | GRCh38 |
| NC_000011.9:g.118037635G>A , CM000673.1:g.118037635G>A | GRCh37 |
| NC_000011.8:g.117542845G>A | NCBI36 |
| NG_042217.1:g.14703C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278947.6:c.615C>T MANE Select | ENSP00000278947.5:p.Asp205= | |
| ENST00000658882.1:c.*440C>T | ENSP00000499572.1:n.*440C>T | |
| ENST00000669850.1:n.857C>T | ||
| ENST00000278947.5:c.615C>T | ENSP00000278947.5:p.Asp205= | |
| NM_004588.4:c.615C>T | NP_004579.1:p.Asp205= | |
| NM_004588.5:c.615C>T MANE Select | NP_004579.1:p.Asp205= |