Linked Data
ClinVar Variation Id:
802964
ClinVar RCV Id:
RCV000989107
dbSNP Id:
rs1312883856
gnomAD v4:
13-48304036-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48304036C>G , CM000675.2:g.48304036C>G | GRCh38 |
| NC_000013.10:g.48878172C>G , CM000675.1:g.48878172C>G | GRCh37 |
| NC_000013.9:g.47776173C>G | NCBI36 |
| NG_009009.1:g.5290C>G , LRG_517:g.5290C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.124C>G MANE Select | ENSP00000267163.4:p.Leu42Val | |
| ENST00000646097.1:c.124C>G | ENSP00000496556.1:p.Leu42Val | |
| ENST00000650461.1:c.124C>G | ENSP00000497193.1:p.Leu42Val | |
| ENST00000267163.4:c.124C>G | ENSP00000267163.4:p.Leu42Val | |
| ENST00000467505.5:c.124C>G | ENSP00000434702.1:p.Leu42Val | |
| ENST00000525036.1:n.286C>G | ||
| NM_000321.2:c.124C>G , LRG_517t1:c.124C>G | NP_000312.2:p.Leu42Val | |
| NM_000321.3:c.124C>G MANE Select | NP_000312.2:p.Leu42Val |