Linked Data
ClinVar Variation Id:
284204
dbSNP Id:
rs376539395
ExAC:
1:197091304 T / C
gnomAD v2:
1-197091304-T-C
gnomAD v3:
1-197122174-T-C
gnomAD v4:
1-197122174-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197122174T>C , CM000663.2:g.197122174T>C | GRCh38 |
| NC_000001.10:g.197091304T>C , CM000663.1:g.197091304T>C | GRCh37 |
| NC_000001.9:g.195357927T>C | NCBI36 |
| NG_015867.1:g.29521A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.1768A>G | ||
| ENST00000367409.9:c.3726A>G MANE Select | ENSP00000356379.4:p.Thr1242= | |
| ENST00000680112.1:n.1782A>G | ||
| ENST00000680265.1:c.3726A>G | ENSP00000505384.1:p.Thr1242= | |
| ENST00000680710.1:c.3726A>G | ENSP00000506676.1:p.Thr1242= | |
| ENST00000681879.1:c.3726A>G | ENSP00000505363.1:p.Thr1242= | |
| ENST00000294732.11:c.3726A>G | ENSP00000294732.7:p.Thr1242= | |
| ENST00000367408.5:c.1476A>G | ENSP00000356378.1:p.Thr492= | |
| ENST00000367409.8:c.3726A>G | ENSP00000356379.4:p.Thr1242= | |
| ENST00000612785.1:c.562-19527A>G | ENSP00000479244.1:n.562-19527A>G | |
| NM_001206846.1:c.3726A>G | NP_001193775.1:p.Thr1242= | |
| NM_018136.4:c.3726A>G | NP_060606.3:p.Thr1242= | |
| NM_018136.5:c.3726A>G MANE Select | NP_060606.3:p.Thr1242= | |
| NM_001206846.2:c.3726A>G | NP_001193775.1:p.Thr1242= |