Linked Data
ClinVar Variation Id:
2150578
ClinVar RCV Id:
RCV003067640
dbSNP Id:
rs1483017438
gnomAD v2:
15-48704903-G-T
gnomAD v4:
15-48412706-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48412706G>T , CM000677.2:g.48412706G>T | GRCh38 |
| NC_000015.9:g.48704903G>T , CM000677.1:g.48704903G>T | GRCh37 |
| NC_000015.8:g.46492195G>T | NCBI36 |
| NG_008805.2:g.238083C>A , LRG_778:g.238083C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*897C>A | ENSP00000453958.2:n.*897C>A | |
| ENST00000674301.2:c.*1602C>A | ENSP00000501333.2:n.*1602C>A | |
| ENST00000682158.1:n.1470C>A | ||
| ENST00000682170.1:n.2270C>A | ||
| ENST00000682767.1:n.1386C>A | ||
| ENST00000316623.10:c.8089C>A MANE Select | ENSP00000325527.5:p.Pro2697Thr | |
| ENST00000674301.1:c.3255C>A | ENSP00000501333.1:n.3255C>A | |
| ENST00000316623.9:c.8089C>A | ENSP00000325527.5:p.Pro2697Thr | |
| ENST00000559133.5:c.3458C>A | ||
| ENST00000561429.1:n.344C>A | ||
| NM_000138.4:c.8089C>A , LRG_778t1:c.8089C>A | NP_000129.3:p.Pro2697Thr | |
| NM_000138.5:c.8089C>A MANE Select | NP_000129.3:p.Pro2697Thr |