Linked Data
ClinVar Variation Id:
316329
ClinVar RCV Id:
RCV000276624
RCV000294620
RCV000330398
RCV000334072
RCV000356014
RCV000368857
RCV000381682
RCV001718649
dbSNP Id:
rs4775760
gnomAD v2:
15-48701612-A-C
gnomAD v3:
15-48409415-A-C
gnomAD v4:
15-48409415-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48409415A>C , CM000677.2:g.48409415A>C | GRCh38 |
| NC_000015.9:g.48701612A>C , CM000677.1:g.48701612A>C | GRCh37 |
| NC_000015.8:g.46488904A>C | NCBI36 |
| NG_008805.2:g.241374T>G , LRG_778:g.241374T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682170.1:n.4372T>G | ||
| ENST00000682767.1:n.3488T>G | ||
| ENST00000316623.10:c.*1575T>G MANE Select | ENSP00000325527.5:n.*1575T>G | |
| ENST00000316623.9:c.*1575T>G | ENSP00000325527.5:n.*1575T>G | |
| NM_000138.4:c.*1575T>G , LRG_778t1:c.*1575T>G | NP_000129.3:n.*1575T>G | |
| NM_000138.5:c.*1575T>G MANE Select | NP_000129.3:n.*1575T>G |