Linked Data
ClinVar Variation Id:
42439
ClinVar RCV Id:
RCV000035284
RCV000181626
RCV000280634
RCV000284299
RCV000338124
RCV000397502
RCV000372736
RCV000400824
RCV001213083
dbSNP Id:
rs145105768
ExAC:
15:48704921 C / T
gnomAD v2:
15-48704921-C-T
gnomAD v3:
15-48412724-C-T
gnomAD v4:
15-48412724-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48412724C>T , CM000677.2:g.48412724C>T | GRCh38 |
| NC_000015.9:g.48704921C>T , CM000677.1:g.48704921C>T | GRCh37 |
| NC_000015.8:g.46492213C>T | NCBI36 |
| NG_008805.2:g.238065G>A , LRG_778:g.238065G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*879G>A | ENSP00000453958.2:n.*879G>A | |
| ENST00000674301.2:c.*1584G>A | ENSP00000501333.2:n.*1584G>A | |
| ENST00000682158.1:n.1452G>A | ||
| ENST00000682170.1:n.2252G>A | ||
| ENST00000682767.1:n.1368G>A | ||
| ENST00000316623.10:c.8071G>A MANE Select | ENSP00000325527.5:p.Gly2691Ser | |
| ENST00000674301.1:c.3237G>A | ENSP00000501333.1:n.3237G>A | |
| ENST00000316623.9:c.8071G>A | ENSP00000325527.5:p.Gly2691Ser | |
| ENST00000559133.5:c.3440G>A | ||
| ENST00000561429.1:n.326G>A | ||
| NM_000138.4:c.8071G>A , LRG_778t1:c.8071G>A | NP_000129.3:p.Gly2691Ser | |
| NM_000138.5:c.8071G>A MANE Select | NP_000129.3:p.Gly2691Ser |