Linked Data
ClinVar Variation Id:
2972396
ClinVar RCV Id:
RCV003835522
dbSNP Id:
rs149168023
ExAC:
X:22065266 G / A
gnomAD v2:
X-22065266-G-A
gnomAD v3:
X-22047148-G-A
gnomAD v4:
X-22047148-G-A
COSMIC:
COSM288768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22047148G>A , CM000685.2:g.22047148G>A | GRCh38 |
| NC_000023.10:g.22065266G>A , CM000685.1:g.22065266G>A | GRCh37 |
| NC_000023.9:g.21975187G>A | NCBI36 |
| NG_007563.2:g.19346G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475778.2:n.712G>A | ||
| ENST00000683214.1:n.544+14025G>A | ||
| ENST00000684143.1:c.286G>A | ENSP00000508264.1:p.Glu96Lys | |
| ENST00000379374.5:c.286G>A MANE Select | ENSP00000368682.4:p.Glu96Lys | |
| ENST00000379374.4:c.286G>A | ENSP00000368682.4:p.Glu96Lys | |
| NM_000444.5:c.286G>A | NP_000435.3:p.Glu96Lys | |
| NM_001282754.1:c.286G>A | NP_001269683.1:p.Glu96Lys | |
| XM_011545535.1:c.286G>A | XP_011543837.1:p.Glu96Lys | |
| XM_024452390.1:c.-6G>A | XP_024308158.1:n.-6G>A | |
| XR_001755695.1:n.965G>A | ||
| NM_000444.6:c.286G>A MANE Select | NP_000435.3:p.Glu96Lys | |
| NM_001282754.2:c.286G>A | NP_001269683.1:p.Glu96Lys |