Linked Data
ClinVar Variation Id:
1479820
ClinVar RCV Id:
RCV002009904
dbSNP Id:
rs370863233
ExAC:
1:197060153 A / C
gnomAD v2:
1-197060153-A-C
gnomAD v3:
1-197091023-A-C
gnomAD v4:
1-197091023-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197091023A>C , CM000663.2:g.197091023A>C | GRCh38 |
| NC_000001.10:g.197060153A>C , CM000663.1:g.197060153A>C | GRCh37 |
| NC_000001.9:g.195326776A>C | NCBI36 |
| NG_015867.1:g.60672T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2750T>G | ||
| ENST00000367409.9:c.9463T>G MANE Select | ENSP00000356379.4:p.Leu3155Val | |
| ENST00000680265.1:c.9685T>G | ENSP00000505384.1:p.Leu3229Val | |
| ENST00000680710.1:c.9439T>G | ENSP00000506676.1:p.Leu3147Val | |
| ENST00000294732.11:c.4708T>G | ENSP00000294732.7:p.Leu1570Val | |
| ENST00000367408.5:c.2458T>G | ENSP00000356378.1:p.Leu820Val | |
| ENST00000367409.8:c.9463T>G | ENSP00000356379.4:p.Leu3155Val | |
| ENST00000612785.1:c.3421T>G | ENSP00000479244.1:p.Leu1141Val | |
| NM_001206846.1:c.4708T>G | NP_001193775.1:p.Leu1570Val | |
| NM_018136.4:c.9463T>G | NP_060606.3:p.Leu3155Val | |
| NM_018136.5:c.9463T>G MANE Select | NP_060606.3:p.Leu3155Val | |
| NM_001206846.2:c.4708T>G | NP_001193775.1:p.Leu1570Val |