Linked Data
ClinVar Variation Id:
10613
dbSNP Id:
rs137852259
gnomAD v4:
X-139561821-G-A
COSMIC:
COSM4521917
PubMed:
PMID:3181127
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139561821G>A , CM000685.2:g.139561821G>A | GRCh38 |
| NC_000023.10:g.138643980G>A , CM000685.1:g.138643980G>A | GRCh37 |
| NC_000023.9:g.138471646G>A | NCBI36 |
| NG_007994.1:g.36086G>A , LRG_556:g.36086G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.1136G>A MANE Select | ENSP00000218099.2:p.Arg379Gln | |
| ENST00000643157.1:n.1723+80G>A | ||
| ENST00000218099.6:c.1136G>A | ENSP00000218099.2:p.Arg379Gln | |
| ENST00000394090.2:c.1022G>A | ENSP00000377650.2:p.Arg341Gln | |
| NM_000133.3:c.1136G>A , LRG_556t1:c.1136G>A | NP_000124.1:p.Arg379Gln | |
| NM_001313913.1:c.1022G>A | NP_001300842.1:p.Arg341Gln | |
| XM_005262397.3:c.1007G>A | XP_005262454.1:p.Arg336Gln | |
| XM_005262397.4:c.1007G>A | XP_005262454.1:p.Arg336Gln | |
| NM_000133.4:c.1136G>A MANE Select | NP_000124.1:p.Arg379Gln | |
| NM_001313913.2:c.1022G>A | NP_001300842.1:p.Arg341Gln |