Linked Data
ClinVar Variation Id:
530672
ClinVar RCV Id:
RCV000636649
dbSNP Id:
rs11575982
ExAC:
X:135741330 G / A
gnomAD v2:
X-135741330-G-A
gnomAD v3:
X-136659171-G-A
gnomAD v4:
X-136659171-G-A
COSMIC:
COSM3372082
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659171G>A , CM000685.2:g.136659171G>A | GRCh38 |
| NC_000023.10:g.135741330G>A , CM000685.1:g.135741330G>A | GRCh37 |
| NC_000023.9:g.135568996G>A | NCBI36 |
| NG_007280.1:g.15995G>A , LRG_141:g.15995G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*160G>A | ENSP00000512122.1:n.*160G>A | |
| ENST00000695725.1:c.*97G>A | ENSP00000512123.1:n.*97G>A | |
| ENST00000695726.1:n.2510G>A | ||
| ENST00000695729.1:n.3345G>A | ||
| ENST00000370629.7:c.542G>A MANE Select | ENSP00000359663.2:p.Arg181Gln | |
| ENST00000370628.2:c.479G>A | ENSP00000359662.2:p.Arg160Gln | |
| ENST00000370629.6:c.542G>A | ENSP00000359663.2:p.Arg181Gln | |
| NM_000074.2:c.542G>A , LRG_141t1:c.542G>A | NP_000065.1:p.Arg181Gln | |
| NM_000074.3:c.542G>A MANE Select | NP_000065.1:p.Arg181Gln |