Linked Data
ClinVar Variation Id:
316327
ClinVar RCV Id:
RCV000261642
RCV000287964
RCV000319132
RCV000345094
RCV000351126
RCV000385314
RCV000389250
dbSNP Id:
rs374297351
gnomAD v2:
15-48701568-A-T
gnomAD v3:
15-48409371-A-T
gnomAD v4:
15-48409371-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48409371A>T , CM000677.2:g.48409371A>T | GRCh38 |
| NC_000015.9:g.48701568A>T , CM000677.1:g.48701568A>T | GRCh37 |
| NC_000015.8:g.46488860A>T | NCBI36 |
| NG_008805.2:g.241418T>A , LRG_778:g.241418T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682170.1:n.4416T>A | ||
| ENST00000682767.1:n.3532T>A | ||
| ENST00000316623.10:c.*1619T>A MANE Select | ENSP00000325527.5:n.*1619T>A | |
| ENST00000316623.9:c.*1619T>A | ENSP00000325527.5:n.*1619T>A | |
| NM_000138.4:c.*1619T>A , LRG_778t1:c.*1619T>A | NP_000129.3:n.*1619T>A | |
| NM_000138.5:c.*1619T>A MANE Select | NP_000129.3:n.*1619T>A |