Linked Data
ClinVar Variation Id:
316328
ClinVar RCV Id:
RCV000298828
RCV000291314
RCV000304567
RCV000339349
RCV000390840
RCV000392600
RCV000392595
RCV002262989
dbSNP Id:
rs17352989
gnomAD v2:
15-48701607-C-T
gnomAD v3:
15-48409410-C-T
gnomAD v4:
15-48409410-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48409410C>T , CM000677.2:g.48409410C>T | GRCh38 |
| NC_000015.9:g.48701607C>T , CM000677.1:g.48701607C>T | GRCh37 |
| NC_000015.8:g.46488899C>T | NCBI36 |
| NG_008805.2:g.241379G>A , LRG_778:g.241379G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682170.1:n.4377G>A | ||
| ENST00000682767.1:n.3493G>A | ||
| ENST00000316623.10:c.*1580G>A MANE Select | ENSP00000325527.5:n.*1580G>A | |
| ENST00000316623.9:c.*1580G>A | ENSP00000325527.5:n.*1580G>A | |
| NM_000138.4:c.*1580G>A , LRG_778t1:c.*1580G>A | NP_000129.3:n.*1580G>A | |
| NM_000138.5:c.*1580G>A MANE Select | NP_000129.3:n.*1580G>A |