Linked Data
ClinVar Variation Id:
2796586
ClinVar RCV Id:
RCV003755262
dbSNP Id:
rs764387593
ExAC:
1:151787065 A / G
gnomAD v2:
1-151787065-A-G
gnomAD v4:
1-151814589-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151814589A>G , CM000663.2:g.151814589A>G | GRCh38 |
| NC_000001.10:g.151787065A>G , CM000663.1:g.151787065A>G | GRCh37 |
| NC_000001.9:g.150053689A>G | NCBI36 |
| NG_029118.1:g.22284T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652040.2:c.633T>C | ENSP00000498548.2:p.Thr211= | |
| ENST00000697811.1:c.918T>C | ENSP00000513447.1:p.Thr306= | |
| ENST00000697812.1:n.56T>C | ||
| ENST00000697813.1:n.913T>C | ||
| ENST00000318247.7:c.918T>C MANE Select | ENSP00000327025.6:p.Thr306= | |
| ENST00000356728.11:c.855T>C | ENSP00000349164.6:p.Thr285= | |
| ENST00000638901.1:c.1109T>C | ||
| ENST00000651814.1:c.918T>C | ENSP00000498691.1:p.Thr306= | |
| ENST00000651893.1:c.328T>C | ||
| ENST00000318247.6:c.918T>C | ENSP00000327025.6:p.Thr306= | |
| ENST00000356728.10:c.855T>C | ENSP00000349164.6:p.Thr285= | |
| ENST00000480719.1:n.201T>C | ||
| NM_001001523.1:c.855T>C | NP_001001523.1:p.Thr285= | |
| NM_005060.3:c.918T>C | NP_005051.2:p.Thr306= | |
| XM_006711484.2:c.1317T>C | XP_006711547.2:p.Thr439= | |
| XR_426792.2:n.1597T>C | ||
| XM_006711484.4:c.1317T>C | XP_006711547.2:p.Thr439= | |
| NM_005060.4:c.918T>C MANE Select | NP_005051.2:p.Thr306= | |
| NM_001001523.2:c.855T>C | NP_001001523.1:p.Thr285= |