Linked Data
ClinVar Variation Id:
457263
ClinVar RCV Id:
RCV001116922
RCV000611742
RCV001116920
RCV001579851
RCV000771857
RCV001115505
RCV001115506
RCV000548881
RCV001116921
RCV004537907
dbSNP Id:
rs760425899
ExAC:
15:48714159 C / T
gnomAD v2:
15-48714159-C-T
gnomAD v3:
15-48421962-C-T
gnomAD v4:
15-48421962-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48421962C>T , CM000677.2:g.48421962C>T | GRCh38 |
| NC_000015.9:g.48714159C>T , CM000677.1:g.48714159C>T | GRCh37 |
| NC_000015.8:g.46501451C>T | NCBI36 |
| NG_008805.2:g.228827G>A , LRG_778:g.228827G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*368G>A | ENSP00000453958.2:n.*368G>A | |
| ENST00000674301.2:c.*1073G>A | ENSP00000501333.2:n.*1073G>A | |
| ENST00000682170.1:n.1741G>A | ||
| ENST00000682767.1:n.857G>A | ||
| ENST00000316623.10:c.7560G>A MANE Select | ENSP00000325527.5:p.Thr2520= | |
| ENST00000674301.1:c.2726G>A | ENSP00000501333.1:n.2726G>A | |
| ENST00000316623.9:c.7560G>A | ENSP00000325527.5:p.Thr2520= | |
| ENST00000559133.5:c.2929G>A | ||
| NM_000138.4:c.7560G>A , LRG_778t1:c.7560G>A | NP_000129.3:p.Thr2520= | |
| NM_000138.5:c.7560G>A MANE Select | NP_000129.3:p.Thr2520= |