Linked Data
ClinVar Variation Id:
325956
dbSNP Id:
rs148295244
ExAC:
17:8000062 G / A
gnomAD v2:
17-8000062-G-A
gnomAD v3:
17-8096744-G-A
gnomAD v4:
17-8096744-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8096744G>A , CM000679.2:g.8096744G>A | GRCh38 |
| NC_000017.10:g.8000062G>A , CM000679.1:g.8000062G>A | GRCh37 |
| NC_000017.9:g.7940787G>A | NCBI36 |
| NG_015807.1:g.27173C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318227.4:c.2019C>T | ENSP00000314879.4:p.Ala673= | |
| ENST00000380149.6:c.2019C>T | ENSP00000369494.2:p.Ala673= | |
| ENST00000448843.7:c.2019C>T MANE Select | ENSP00000400581.2:p.Ala673= | |
| ENST00000318227.3:c.2415C>T | ENSP00000314879.3:p.Ala805= | |
| ENST00000380149.5:c.2487C>T | ENSP00000369494.1:p.Ala829= | |
| ENST00000448843.6:c.2019C>T | ENSP00000400581.2:p.Ala673= | |
| ENST00000583808.1:n.256C>T | ||
| NM_001165960.1:c.2415C>T | NP_001159432.1:p.Ala805= | |
| NM_021628.2:c.2019C>T | NP_067641.2:p.Ala673= | |
| XR_001752579.2:n.2170C>T | ||
| XR_001752580.2:n.2081C>T | ||
| NM_001369446.1:c.2016C>T | NP_001356375.1:p.Ala672= | |
| NM_021628.3:c.2019C>T MANE Select | NP_067641.2:p.Ala673= |