Linked Data
ClinVar Variation Id:
733186
ClinVar RCV Id:
RCV000908436
dbSNP Id:
rs769728462
ExAC:
X:135741383 G / A
gnomAD v2:
X-135741383-G-A
gnomAD v3:
X-136659224-G-A
gnomAD v4:
X-136659224-G-A
COSMIC:
COSM5345910
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659224G>A , CM000685.2:g.136659224G>A | GRCh38 |
| NC_000023.10:g.135741383G>A , CM000685.1:g.135741383G>A | GRCh37 |
| NC_000023.9:g.135569049G>A | NCBI36 |
| NG_007280.1:g.16048G>A , LRG_141:g.16048G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*213G>A | ENSP00000512122.1:n.*213G>A | |
| ENST00000695725.1:c.*150G>A | ENSP00000512123.1:n.*150G>A | |
| ENST00000695726.1:n.2563G>A | ||
| ENST00000695729.1:n.3398G>A | ||
| ENST00000370629.7:c.595G>A MANE Select | ENSP00000359663.2:p.Gly199Ser | |
| ENST00000370628.2:c.532G>A | ENSP00000359662.2:p.Gly178Ser | |
| ENST00000370629.6:c.595G>A | ENSP00000359663.2:p.Gly199Ser | |
| NM_000074.2:c.595G>A , LRG_141t1:c.595G>A | NP_000065.1:p.Gly199Ser | |
| NM_000074.3:c.595G>A MANE Select | NP_000065.1:p.Gly199Ser |