Linked Data
ClinVar Variation Id:
3224317
ClinVar RCV Id:
RCV004519043
dbSNP Id:
rs879168083
gnomAD v3:
12-32841164-G-C
gnomAD v4:
12-32841164-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32841164G>C , CM000674.2:g.32841164G>C | GRCh38 |
| NC_000012.11:g.32994098G>C , CM000674.1:g.32994098G>C | GRCh37 |
| NC_000012.10:g.32885365G>C | NCBI36 |
| NG_009000.1:g.60683C>G , LRG_398:g.60683C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700559.2:c.1420C>G | ENSP00000515065.2:p.Leu474Val | |
| ENST00000700563.2:c.1420C>G | ENSP00000515066.2:p.Leu474Val | |
| ENST00000700559.1:c.635C>G | ||
| ENST00000700560.1:n.635C>G | ||
| ENST00000700561.1:n.761C>G | ||
| ENST00000700563.1:c.1374C>G | ||
| ENST00000700564.1:n.1424C>G | ||
| ENST00000700565.1:n.1273C>G | ||
| ENST00000070846.11:c.1552C>G | ENSP00000070846.6:p.Leu518Val | |
| ENST00000340811.9:c.1420C>G MANE Select | ENSP00000342800.5:p.Leu474Val | |
| ENST00000070846.10:c.1552C>G | ENSP00000070846.6:p.Leu518Val | |
| ENST00000340811.8:c.1420C>G | ENSP00000342800.4:p.Leu474Val | |
| ENST00000613243.1:c.1552C>G | ENSP00000478295.1:p.Leu518Val | |
| NM_001005242.2:c.1420C>G | NP_001005242.2:p.Leu474Val | |
| NM_004572.3:c.1552C>G , LRG_398t1:c.1552C>G | NP_004563.2:p.Leu518Val | |
| NM_001005242.3:c.1420C>G MANE Select | NP_001005242.2:p.Leu474Val | |
| NM_004572.4:c.1552C>G | NP_004563.2:p.Leu518Val |