Linked Data
ClinVar Variation Id:
2595
dbSNP Id:
rs119458971
ExAC:
15:76584777 C / T
gnomAD v2:
15-76584777-C-T
gnomAD v3:
15-76292436-C-T
gnomAD v4:
15-76292436-C-T
PubMed:
PMID:1430199
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.76292436C>T , CM000677.2:g.76292436C>T | GRCh38 |
| NC_000015.9:g.76584777C>T , CM000677.1:g.76584777C>T | GRCh37 |
| NC_000015.8:g.74371832C>T | NCBI36 |
| NG_007077.2:g.24034G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559386.2:c.346G>A | ENSP00000452777.2:p.Gly116Arg | |
| ENST00000560044.6:c.*341G>A | ENSP00000452942.1:n.*341G>A | |
| ENST00000560595.6:c.346G>A | ENSP00000453345.2:p.Gly116Arg | |
| ENST00000565910.6:c.346G>A | ENSP00000458001.2:p.Gly116Arg | |
| ENST00000685118.1:c.*341G>A | ENSP00000509473.1:n.*341G>A | |
| ENST00000685548.1:c.346G>A | ENSP00000510343.1:p.Gly116Arg | |
| ENST00000685863.1:c.199G>A | ENSP00000509361.1:p.Gly67Arg | |
| ENST00000687293.1:c.346G>A | ENSP00000509928.1:p.Gly116Arg | |
| ENST00000687975.1:c.*222G>A | ENSP00000508690.1:n.*222G>A | |
| ENST00000688154.1:c.346G>A | ENSP00000510637.1:p.Gly116Arg | |
| ENST00000688389.1:c.346G>A | ENSP00000510491.1:p.Gly116Arg | |
| ENST00000688637.1:n.427G>A | ||
| ENST00000688908.1:c.199G>A | ENSP00000510242.1:p.Gly67Arg | |
| ENST00000689730.1:c.346G>A | ENSP00000510006.1:p.Gly116Arg | |
| ENST00000689739.1:n.427G>A | ||
| ENST00000690610.1:c.346G>A | ENSP00000510473.1:p.Gly116Arg | |
| ENST00000691021.1:c.*341G>A | ENSP00000510805.1:n.*341G>A | |
| ENST00000691071.1:n.125G>A | ||
| ENST00000691695.1:c.199G>A | ENSP00000509402.1:p.Gly67Arg | |
| ENST00000692691.1:c.346G>A | ENSP00000508808.1:p.Gly116Arg | |
| ENST00000693064.1:c.*321G>A | ENSP00000510720.1:n.*321G>A | |
| ENST00000557943.6:c.346G>A MANE Select | ENSP00000452762.1:p.Gly116Arg | |
| ENST00000267950.12:c.*69G>A | ENSP00000267950.8:n.*69G>A | |
| ENST00000433983.6:c.199G>A | ENSP00000399273.2:p.Gly67Arg | |
| ENST00000557943.5:c.346G>A | ENSP00000452762.1:p.Gly116Arg | |
| ENST00000559075.5:n.370G>A | ||
| ENST00000559386.1:c.346G>A | ENSP00000452777.1:p.Gly116Arg | |
| ENST00000559602.5:c.40-4491G>A | ENSP00000452659.1:n.40-4491G>A | |
| ENST00000559758.5:n.187G>A | ||
| ENST00000559973.5:c.56G>A | ||
| ENST00000560044.5:c.*341G>A | ENSP00000452942.1:n.*341G>A | |
| ENST00000560309.5:c.*259G>A | ENSP00000453753.1:n.*259G>A | |
| ENST00000560345.5:c.158G>A | ||
| ENST00000560595.5:c.346G>A | ENSP00000453345.1:p.Gly116Arg | |
| ENST00000560726.5:c.-435G>A | ENSP00000453098.1:n.-435G>A | |
| ENST00000560899.5:c.-435G>A | ENSP00000453422.1:n.-435G>A | |
| ENST00000561092.1:n.278G>A | ||
| NM_000126.3:c.346G>A | NP_000117.1:p.Gly116Arg | |
| NM_001127716.1:c.199G>A | NP_001121188.1:p.Gly67Arg | |
| XR_931766.1:n.401G>A | ||
| XR_931766.3:n.427G>A | ||
| NM_000126.4:c.346G>A MANE Select | NP_000117.1:p.Gly116Arg | |
| NM_001127716.2:c.199G>A | NP_001121188.1:p.Gly67Arg |