Linked Data
ClinVar Variation Id:
4331
ClinVar RCV Id:
RCV000004577
dbSNP Id:
rs121908313
PubMed:
PMID:12791040
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155237470G>T , CM000663.2:g.155237470G>T | GRCh38 |
| NC_000001.10:g.155207261G>T , CM000663.1:g.155207261G>T | GRCh37 |
| NC_000001.9:g.153473885G>T | NCBI36 |
| NG_009783.1:g.12228C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368373.8:c.870C>A MANE Select | ENSP00000357357.3:p.Phe290Leu | |
| ENST00000327247.9:c.870C>A | ENSP00000314508.5:p.Phe290Leu | |
| ENST00000368373.7:c.870C>A | ENSP00000357357.3:p.Phe290Leu | |
| ENST00000427500.7:c.723C>A | ENSP00000402577.2:p.Phe241Leu | |
| ENST00000428024.3:c.609C>A | ENSP00000397986.2:p.Phe203Leu | |
| ENST00000484489.5:n.340-1182C>A | ||
| ENST00000491081.5:n.475C>A | ||
| ENST00000497670.5:n.493C>A | ||
| NM_000157.3:c.870C>A | NP_000148.2:p.Phe290Leu | |
| NM_001005741.2:c.870C>A | NP_001005741.1:p.Phe290Leu | |
| NM_001005742.2:c.870C>A | NP_001005742.1:p.Phe290Leu | |
| NM_001171811.1:c.609C>A | NP_001165282.1:p.Phe203Leu | |
| NM_001171812.1:c.723C>A | NP_001165283.1:p.Phe241Leu | |
| XM_006711270.1:c.870C>A | XP_006711333.1:p.Phe290Leu | |
| XM_011509407.1:c.870C>A | XP_011507709.1:p.Phe290Leu | |
| NM_000157.4:c.870C>A MANE Select | NP_000148.2:p.Phe290Leu | |
| NM_001005741.3:c.870C>A | NP_001005741.1:p.Phe290Leu | |
| NM_001005742.3:c.870C>A | NP_001005742.1:p.Phe290Leu | |
| NM_001171811.2:c.609C>A | NP_001165282.1:p.Phe203Leu | |
| NM_001171812.2:c.723C>A | NP_001165283.1:p.Phe241Leu |