Linked Data
ClinVar Variation Id:
376516
dbSNP Id:
rs1057519950
COSMIC:
COSM1755180
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151490963T>C , CM000669.2:g.151490963T>C | GRCh38 |
| NC_000007.13:g.151188049T>C , CM000669.1:g.151188049T>C | GRCh37 |
| NC_000007.12:g.150818982T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262187.10:c.104A>G MANE Select | ENSP00000262187.5:p.Tyr35Cys | |
| ENST00000262187.9:c.104A>G | ENSP00000262187.5:p.Tyr35Cys | |
| ENST00000470370.1:c.-212A>G | ENSP00000417212.1:n.-212A>G | |
| ENST00000472642.5:c.-212A>G | ENSP00000420726.1:n.-212A>G | |
| ENST00000478470.5:c.*52A>G | ENSP00000417802.1:n.*52A>G | |
| ENST00000496004.5:c.-212A>G | ENSP00000418161.1:n.-212A>G | |
| NM_005614.3:c.104A>G | NP_005605.1:p.Tyr35Cys | |
| XM_011516457.1:c.71A>G | XP_011514759.1:p.Tyr24Cys | |
| XM_011516457.2:c.71A>G | XP_011514759.1:p.Tyr24Cys | |
| XM_024446854.1:c.71A>G | XP_024302622.1:p.Tyr24Cys | |
| NM_005614.4:c.104A>G MANE Select | NP_005605.1:p.Tyr35Cys |