Linked Data
ClinVar Variation Id:
551
ClinVar RCV Id:
RCV000000581
dbSNP Id:
rs118204039
PubMed:
PMID:1376018
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57550734A>G , CM000680.2:g.57550734A>G | GRCh38 |
| NC_000018.9:g.55217966A>G , CM000680.1:g.55217966A>G | GRCh37 |
| NC_000018.8:g.53368964A>G | NCBI36 |
| NG_008175.1:g.41004T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262093.11:c.1250T>C MANE Select | ENSP00000262093.6:p.Phe417Ser | |
| ENST00000382873.8:c.1034T>C | ENSP00000372326.4:p.Phe345Ser | |
| ENST00000651787.1:n.1356T>C | ||
| ENST00000652755.1:c.1268T>C | ENSP00000498358.1:p.Phe423Ser | |
| ENST00000262093.9:c.1250T>C | ENSP00000262093.5:p.Phe417Ser | |
| ENST00000382873.7:c.1268T>C | ENSP00000372326.3:p.Phe423Ser | |
| ENST00000585494.5:c.*977T>C | ENSP00000465243.1:n.*977T>C | |
| NM_000140.3:c.1250T>C | NP_000131.2:p.Phe417Ser | |
| NM_001012515.2:c.1268T>C | NP_001012533.1:p.Phe423Ser | |
| XM_011525881.1:c.1169T>C | XP_011524183.1:p.Phe390Ser | |
| XM_011525882.1:c.1034T>C | XP_011524184.1:p.Phe345Ser | |
| NM_000140.4:c.1250T>C | NP_000131.2:p.Phe417Ser | |
| NM_001012515.3:c.1268T>C | NP_001012533.1:p.Phe423Ser | |
| XM_011525882.2:c.1034T>C | XP_011524184.1:p.Phe345Ser | |
| XM_017025614.2:c.1151T>C | XP_016881103.1:p.Phe384Ser | |
| NM_000140.5:c.1250T>C MANE Select | NP_000131.2:p.Phe417Ser | |
| NM_001012515.4:c.1268T>C | NP_001012533.1:p.Phe423Ser | |
| NM_001371094.1:c.1151T>C | NP_001358023.1:p.Phe384Ser | |
| NM_001371095.1:c.1034T>C | NP_001358024.1:p.Phe345Ser | |
| NM_001374778.1:c.1190T>C | NP_001361707.1:p.Phe397Ser |