Linked Data
ClinVar Variation Id:
1897883
dbSNP Id:
rs199575079
ExAC:
1:197069842 G / C
gnomAD v2:
1-197069842-G-C
gnomAD v3:
1-197100712-G-C
gnomAD v4:
1-197100712-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197100712G>C , CM000663.2:g.197100712G>C | GRCh38 |
| NC_000001.10:g.197069842G>C , CM000663.1:g.197069842G>C | GRCh37 |
| NC_000001.9:g.195336465G>C | NCBI36 |
| NG_015867.1:g.50983C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2108-4548C>G | ||
| ENST00000367409.9:c.8539C>G MANE Select | ENSP00000356379.4:p.Leu2847Val | |
| ENST00000680265.1:c.8539C>G | ENSP00000505384.1:p.Leu2847Val | |
| ENST00000680710.1:c.8539C>G | ENSP00000506676.1:p.Leu2847Val | |
| ENST00000294732.11:c.4066-4548C>G | ENSP00000294732.7:n.4066-4548C>G | |
| ENST00000367408.5:c.1816-4548C>G | ENSP00000356378.1:n.1816-4548C>G | |
| ENST00000367409.8:c.8539C>G | ENSP00000356379.4:p.Leu2847Val | |
| ENST00000612785.1:c.2497C>G | ENSP00000479244.1:p.Leu833Val | |
| NM_001206846.1:c.4066-4548C>G | NP_001193775.1:n.4066-4548C>G | |
| NM_018136.4:c.8539C>G | NP_060606.3:p.Leu2847Val | |
| NM_018136.5:c.8539C>G MANE Select | NP_060606.3:p.Leu2847Val | |
| NM_001206846.2:c.4066-4548C>G | NP_001193775.1:n.4066-4548C>G |