Linked Data
ClinVar Variation Id:
769712
ClinVar RCV Id:
RCV000948768
dbSNP Id:
rs2230761
ExAC:
7:48146639 A / G
gnomAD v2:
7-48146639-A-G
gnomAD v3:
7-48107042-A-G
gnomAD v4:
7-48107042-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.48107042A>G , CM000669.2:g.48107042A>G | GRCh38 |
| NC_000007.13:g.48146639A>G , CM000669.1:g.48146639A>G | GRCh37 |
| NC_000007.12:g.48113164A>G | NCBI36 |
| NG_051802.1:g.23440A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395564.9:c.606A>G MANE Select | ENSP00000378931.4:p.Thr202= | |
| ENST00000331803.8:c.606A>G | ENSP00000330032.4:p.Thr202= | |
| ENST00000395560.7:c.*103A>G | ENSP00000378927.3:n.*103A>G | |
| ENST00000395564.8:c.606A>G | ENSP00000378931.4:p.Thr202= | |
| ENST00000417464.6:c.*103A>G | ENSP00000413611.2:n.*103A>G | |
| ENST00000444999.5:c.*236A>G | ENSP00000396820.1:n.*236A>G | |
| ENST00000457596.5:c.*103A>G | ENSP00000408899.1:n.*103A>G | |
| ENST00000482015.5:n.472A>G | ||
| ENST00000495446.1:n.2397A>G | ||
| NM_001287426.1:c.606A>G | NP_001274355.1:p.Thr202= | |
| NM_001287428.1:c.195A>G | NP_001274357.1:p.Thr65= | |
| NM_001287429.1:c.195A>G | NP_001274358.1:p.Thr65= | |
| NM_001287430.1:c.195A>G | NP_001274359.1:p.Thr65= | |
| NM_003364.3:c.606A>G | NP_003355.1:p.Thr202= | |
| NR_109837.1:n.562A>G | ||
| XM_005249838.3:c.414A>G | XP_005249895.1:p.Thr138= | |
| XM_011515512.1:c.606A>G | XP_011513814.1:p.Thr202= | |
| XM_011515513.1:c.357A>G | XP_011513815.1:p.Thr119= | |
| XM_011515514.1:c.357A>G | XP_011513816.1:p.Thr119= | |
| XM_011515515.1:c.279A>G | XP_011513817.1:p.Thr93= | |
| NM_001362774.1:c.606A>G | NP_001349703.1:p.Thr202= | |
| XM_005249838.4:c.414A>G | XP_005249895.1:p.Thr138= | |
| XM_011515512.2:c.606A>G | XP_011513814.1:p.Thr202= | |
| XM_011515513.2:c.357A>G | XP_011513815.1:p.Thr119= | |
| XM_011515514.2:c.357A>G | XP_011513816.1:p.Thr119= | |
| XM_011515515.2:c.279A>G | XP_011513817.1:p.Thr93= | |
| NM_003364.4:c.606A>G MANE Select | NP_003355.1:p.Thr202= | |
| NM_001287429.2:c.195A>G | NP_001274358.1:p.Thr65= | |
| NM_001287426.2:c.606A>G | NP_001274355.1:p.Thr202= | |
| NM_001287428.2:c.195A>G | NP_001274357.1:p.Thr65= | |
| NM_001362774.2:c.606A>G | NP_001349703.1:p.Thr202= |