Linked Data
ClinVar Variation Id:
2419893
ClinVar RCV Id:
RCV003118418
dbSNP Id:
rs747106590
ExAC:
11:124507074 A / T
gnomAD v2:
11-124507074-A-T
gnomAD v3:
11-124637178-A-T
gnomAD v4:
11-124637178-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124637178A>T , CM000673.2:g.124637178A>T | GRCh38 |
| NC_000011.9:g.124507074A>T , CM000673.1:g.124507074A>T | GRCh37 |
| NC_000011.8:g.124012284A>T | NCBI36 |
| NG_028132.1:g.44126T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263593.8:c.1345T>A MANE Select | ENSP00000263593.3:p.Cys449Ser | |
| ENST00000263593.7:c.1345T>A | ENSP00000263593.3:p.Cys449Ser | |
| ENST00000545756.5:c.1240T>A | ENSP00000437877.1:p.Cys414Ser | |
| ENST00000618733.4:c.1240T>A | ENSP00000478211.1:p.Cys414Ser | |
| NM_001199922.1:c.1240T>A | NP_001186851.1:p.Cys414Ser | |
| NM_170601.4:c.1345T>A | NP_733746.1:p.Cys449Ser | |
| XM_011542874.1:c.772T>A | XP_011541176.1:p.Cys258Ser | |
| XM_017017930.1:c.772T>A | XP_016873419.1:p.Cys258Ser | |
| NM_170601.5:c.1345T>A MANE Select | NP_733746.1:p.Cys449Ser | |
| NM_001199922.2:c.1240T>A | NP_001186851.1:p.Cys414Ser |