Linked Data
ClinVar Variation Id:
18118
ClinVar RCV Id:
RCV000019746
dbSNP Id:
rs121912694
ExAC:
2:44507966 G / A
gnomAD v2:
2-44507966-G-A
gnomAD v4:
2-44280827-G-A
PubMed:
PMID:8054986
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44280827G>A , CM000664.2:g.44280827G>A | GRCh38 |
| NC_000002.11:g.44507966G>A , CM000664.1:g.44507966G>A | GRCh37 |
| NC_000002.10:g.44361470G>A | NCBI36 |
| NG_008233.1:g.10370G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260649.11:c.542G>A MANE Select | ENSP00000260649.6:p.Arg181Gln | |
| ENST00000649044.1:c.*553G>A | ENSP00000497083.1:n.*553G>A | |
| ENST00000260649.10:c.542G>A | ENSP00000260649.6:p.Arg181Gln | |
| ENST00000409229.7:c.542G>A | ENSP00000386620.3:p.Arg181Gln | |
| ENST00000409387.5:c.542G>A | ENSP00000387308.1:p.Arg181Gln | |
| ENST00000409741.5:c.542G>A | ENSP00000386954.1:p.Arg181Gln | |
| ENST00000410056.7:c.542G>A | ENSP00000387337.3:p.Arg181Gln | |
| ENST00000611973.4:c.542G>A | ENSP00000483618.1:p.Arg181Gln | |
| NM_000341.3:c.542G>A | NP_000332.2:p.Arg181Gln | |
| XM_011533047.1:c.542G>A | XP_011531349.1:p.Arg181Gln | |
| XM_011533047.3:c.542G>A | XP_011531349.1:p.Arg181Gln | |
| NM_000341.4:c.542G>A MANE Select | NP_000332.2:p.Arg181Gln |