Linked Data
ClinVar Variation Id:
286120
dbSNP Id:
rs777582215
ExAC:
1:160252885 A / G
gnomAD v2:
1-160252885-A-G
gnomAD v3:
1-160283095-A-G
gnomAD v4:
1-160283095-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160283095A>G , CM000663.2:g.160283095A>G | GRCh38 |
| NC_000001.10:g.160252885A>G , CM000663.1:g.160252885A>G | GRCh37 |
| NC_000001.9:g.158519509A>G | NCBI36 |
| NG_008637.1:g.7057T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368072.10:c.195T>C MANE Select | ENSP00000357051.5:p.Ala65= | |
| ENST00000556710.6:c.85T>C | ENSP00000451235.2:p.Phe29Leu | |
| ENST00000368072.9:c.195T>C | ENSP00000357051.5:p.Ala65= | |
| ENST00000392220.2:c.135T>C | ENSP00000376054.2:p.Ala45= | |
| ENST00000462644.5:c.135T>C | ENSP00000435896.1:p.Ala45= | |
| ENST00000472750.5:c.85T>C | ENSP00000434633.1:p.Phe29Leu | |
| ENST00000524939.1:n.212T>C | ||
| ENST00000532508.5:n.167T>C | ||
| ENST00000532643.5:c.195T>C | ENSP00000435915.1:p.Ala65= | |
| ENST00000533104.1:n.94T>C | ||
| ENST00000533699.5:n.189T>C | ||
| ENST00000556710.5:c.-161T>C | ENSP00000451235.1:n.-161T>C | |
| NM_001193644.1:c.195T>C | NP_001180573.1:p.Ala65= | |
| NM_002857.3:c.195T>C | NP_002848.1:p.Ala65= | |
| NR_036492.1:n.112T>C | ||
| NR_036493.1:n.222T>C | ||
| NM_002857.4:c.195T>C MANE Select | NP_002848.1:p.Ala65= | |
| NR_036492.2:n.94T>C | ||
| NR_036493.2:n.204T>C |