Linked Data
ClinVar Variation Id:
1765695
ClinVar RCV Id:
RCV002378575
dbSNP Id:
rs1411089830
gnomAD v4:
13-48364939-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48364939C>G , CM000675.2:g.48364939C>G | GRCh38 |
| NC_000013.10:g.48939075C>G , CM000675.1:g.48939075C>G | GRCh37 |
| NC_000013.9:g.47837076C>G | NCBI36 |
| NG_009009.1:g.66193C>G , LRG_517:g.66193C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.907C>G MANE Select | ENSP00000267163.4:p.Leu303Val | |
| ENST00000650461.1:c.907C>G | ENSP00000497193.1:p.Leu303Val | |
| ENST00000267163.4:c.907C>G | ENSP00000267163.4:p.Leu303Val | |
| NM_000321.2:c.907C>G , LRG_517t1:c.907C>G | NP_000312.2:p.Leu303Val | |
| XM_011535171.1:c.646C>G | XP_011533473.1:p.Leu216Val | |
| XM_011535171.2:c.646C>G | XP_011533473.1:p.Leu216Val | |
| XR_002957522.1:n.159G>C | ||
| NM_000321.3:c.907C>G MANE Select | NP_000312.2:p.Leu303Val |