Linked Data
ClinVar Variation Id:
457262
ClinVar RCV Id:
RCV000560345
RCV001120206
RCV001120208
RCV001120204
RCV001120209
RCV001120210
RCV001120205
RCV001120207
dbSNP Id:
rs756295016
ExAC:
15:48714203 C / T
gnomAD v2:
15-48714203-C-T
gnomAD v3:
15-48422006-C-T
gnomAD v4:
15-48422006-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48422006C>T , CM000677.2:g.48422006C>T | GRCh38 |
| NC_000015.9:g.48714203C>T , CM000677.1:g.48714203C>T | GRCh37 |
| NC_000015.8:g.46501495C>T | NCBI36 |
| NG_008805.2:g.228783G>A , LRG_778:g.228783G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*324G>A | ENSP00000453958.2:n.*324G>A | |
| ENST00000674301.2:c.*1029G>A | ENSP00000501333.2:n.*1029G>A | |
| ENST00000682170.1:n.1697G>A | ||
| ENST00000682767.1:n.813G>A | ||
| ENST00000316623.10:c.7516G>A MANE Select | ENSP00000325527.5:p.Gly2506Ser | |
| ENST00000674301.1:c.2682G>A | ENSP00000501333.1:n.2682G>A | |
| ENST00000316623.9:c.7516G>A | ENSP00000325527.5:p.Gly2506Ser | |
| ENST00000559133.5:c.2885G>A | ||
| NM_000138.4:c.7516G>A , LRG_778t1:c.7516G>A | NP_000129.3:p.Gly2506Ser | |
| NM_000138.5:c.7516G>A MANE Select | NP_000129.3:p.Gly2506Ser |