Linked Data
ClinVar Variation Id:
316384
ClinVar RCV Id:
RCV000259442
RCV000301280
RCV000305364
RCV000313942
RCV000350131
RCV000356074
RCV000392073
RCV000405863
RCV000600794
RCV000632069
RCV001535413
dbSNP Id:
rs377386372
ExAC:
15:48802353 A / G
gnomAD v2:
15-48802353-A-G
gnomAD v3:
15-48510156-A-G
gnomAD v4:
15-48510156-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48510156A>G , CM000677.2:g.48510156A>G | GRCh38 |
| NC_000015.9:g.48802353A>G , CM000677.1:g.48802353A>G | GRCh37 |
| NC_000015.8:g.46589645A>G | NCBI36 |
| NG_008805.2:g.140633T>C , LRG_778:g.140633T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.1602T>C | ENSP00000453958.2:p.Cys534= | |
| ENST00000674301.2:c.1602T>C | ENSP00000501333.2:p.Cys534= | |
| ENST00000684448.1:n.276T>C | ||
| ENST00000316623.10:c.1602T>C MANE Select | ENSP00000325527.5:p.Cys534= | |
| ENST00000316623.9:c.1602T>C | ENSP00000325527.5:p.Cys534= | |
| ENST00000537463.6:c.636+27555T>C | ENSP00000440294.2:n.636+27555T>C | |
| NM_000138.4:c.1602T>C , LRG_778t1:c.1602T>C | NP_000129.3:p.Cys534= | |
| NM_000138.5:c.1602T>C MANE Select | NP_000129.3:p.Cys534= |