Linked Data
ClinVar Variation Id:
374930
ClinVar RCV Id:
RCV000449635
dbSNP Id:
rs1060499539
gnomAD v4:
4-70631707-T-G
PubMed:
PMID:28334996
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.70631707T>G , CM000666.2:g.70631707T>G | GRCh38 |
| NC_000004.11:g.71497424T>G , CM000666.1:g.71497424T>G | GRCh37 |
| NG_013024.1:g.7964T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396073.4:c.92T>G MANE Select | ENSP00000379383.4:p.Leu31Arg | |
| ENST00000396073.3:c.92T>G | ENSP00000379383.3:p.Leu31Arg | |
| NM_031889.2:c.92T>G | NP_114095.2:p.Leu31Arg | |
| XM_006714056.2:c.92T>G | XP_006714119.1:p.Leu31Arg | |
| XM_006714056.4:c.92T>G | XP_006714119.1:p.Leu31Arg | |
| NM_031889.3:c.92T>G MANE Select | NP_114095.2:p.Leu31Arg |