Linked Data
ClinVar Variation Id:
527916
dbSNP Id:
rs535576919
gnomAD v2:
13-48947611-C-G
gnomAD v3:
13-48373475-C-G
gnomAD v4:
13-48373475-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48373475C>G , CM000675.2:g.48373475C>G | GRCh38 |
| NC_000013.10:g.48947611C>G , CM000675.1:g.48947611C>G | GRCh37 |
| NC_000013.9:g.47845612C>G | NCBI36 |
| NG_009009.1:g.74729C>G , LRG_517:g.74729C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1198C>G MANE Select | ENSP00000267163.4:p.Leu400Val | |
| ENST00000650461.1:c.1198C>G | ENSP00000497193.1:p.Leu400Val | |
| ENST00000267163.4:c.1198C>G | ENSP00000267163.4:p.Leu400Val | |
| NM_000321.2:c.1198C>G , LRG_517t1:c.1198C>G | NP_000312.2:p.Leu400Val | |
| XM_011535171.1:c.937C>G | XP_011533473.1:p.Leu313Val | |
| XM_011535171.2:c.937C>G | XP_011533473.1:p.Leu313Val | |
| XR_002957522.1:n.121+685G>C | ||
| NM_000321.3:c.1198C>G MANE Select | NP_000312.2:p.Leu400Val |