Linked Data
ClinVar Variation Id:
2043332
ClinVar RCV Id:
RCV002908610
dbSNP Id:
rs748274754
ExAC:
20:44684864 G / A
gnomAD v2:
20-44684864-G-A
gnomAD v3:
20-46056225-G-A
gnomAD v4:
20-46056225-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46056225G>A , CM000682.2:g.46056225G>A | GRCh38 |
| NC_000020.10:g.44684864G>A , CM000682.1:g.44684864G>A | GRCh37 |
| NC_000020.9:g.44118271G>A | NCBI36 |
| NG_046341.1:g.39536G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243964.7:c.2863G>A MANE Select | ENSP00000243964.4:p.Val955Ile | |
| ENST00000243964.6:c.2863G>A | ENSP00000243964.3:p.Val955Ile | |
| ENST00000454036.6:c.2932G>A | ENSP00000387694.1:p.Val978Ile | |
| ENST00000616201.4:c.1298-2431G>A | ENSP00000484585.1:n.1298-2431G>A | |
| ENST00000616202.4:c.613-2256G>A | ENSP00000478369.1:n.613-2256G>A | |
| ENST00000616933.4:c.*2181G>A | ENSP00000477569.1:n.*2181G>A | |
| ENST00000626937.2:c.510-3374G>A | ENSP00000485953.1:n.510-3374G>A | |
| ENST00000628413.1:n.379G>A | ||
| NM_001134771.1:c.2932G>A | NP_001128243.1:p.Val978Ile | |
| NM_020708.4:c.2863G>A | NP_065759.1:p.Val955Ile | |
| XM_017027981.1:c.2932G>A | XP_016883470.1:p.Val978Ile | |
| NM_001134771.2:c.2932G>A | NP_001128243.1:p.Val978Ile | |
| NM_020708.5:c.2863G>A MANE Select | NP_065759.1:p.Val955Ile |