Linked Data
ClinVar Variation Id:
207940
ClinVar RCV Id:
RCV000190214
dbSNP Id:
rs796052195
PubMed:
PMID:26132555
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150951544A>G , CM000669.2:g.150951544A>G | GRCh38 |
| NC_000007.13:g.150648632A>G , CM000669.1:g.150648632A>G | GRCh37 |
| NC_000007.12:g.150279565A>G | NCBI36 |
| NG_008916.1:g.31383T>C , LRG_288:g.31383T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1147T>C | ||
| ENST00000684241.1:n.2682T>C | ||
| ENST00000262186.10:c.1849T>C MANE Select | ENSP00000262186.5:p.Phe617Leu | |
| ENST00000330883.9:c.829T>C | ENSP00000328531.4:p.Phe277Leu | |
| ENST00000262186.9:c.1849T>C | ENSP00000262186.5:p.Phe617Leu | |
| ENST00000330883.8:c.829T>C | ENSP00000328531.4:p.Phe277Leu | |
| ENST00000430723.4:c.1501T>C | ENSP00000387657.4:p.Phe501Leu | |
| ENST00000461280.1:n.1136T>C | ||
| ENST00000473610.5:n.1154T>C | ||
| ENST00000532957.5:n.2072T>C | ||
| NM_000238.3:c.1849T>C , LRG_288t1:c.1849T>C | NP_000229.1:p.Phe617Leu | |
| NM_001204798.1:c.829T>C | NP_001191727.1:p.Phe277Leu | |
| NM_172056.2:c.1849T>C , LRG_288t2:c.1849T>C | NP_742053.1:p.Phe617Leu | |
| NM_172057.2:c.829T>C , LRG_288t3:c.829T>C | NP_742054.1:p.Phe277Leu | |
| XM_011516185.1:c.1549T>C | XP_011514487.1:p.Phe517Leu | |
| XM_011516186.1:c.1849T>C | XP_011514488.1:p.Phe617Leu | |
| XM_011516185.2:c.1549T>C | XP_011514487.1:p.Phe517Leu | |
| XM_011516186.3:c.1849T>C | XP_011514488.1:p.Phe617Leu | |
| XM_017012195.1:c.1699T>C | XP_016867684.1:p.Phe567Leu | |
| XM_017012196.1:c.1672T>C | XP_016867685.1:p.Phe558Leu | |
| NM_000238.4:c.1849T>C MANE Select | NP_000229.1:p.Phe617Leu | |
| NM_001204798.2:c.829T>C | NP_001191727.1:p.Phe277Leu | |
| NM_172057.3:c.829T>C | NP_742054.1:p.Phe277Leu |