Linked Data
ClinVar Variation Id:
739351
dbSNP Id:
rs151181806
ExAC:
15:48737649 G / A
gnomAD v2:
15-48737649-G-A
gnomAD v3:
15-48445452-G-A
gnomAD v4:
15-48445452-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48445452G>A , CM000677.2:g.48445452G>A | GRCh38 |
| NC_000015.9:g.48737649G>A , CM000677.1:g.48737649G>A | GRCh37 |
| NC_000015.8:g.46524941G>A | NCBI36 |
| NG_008805.2:g.205337C>T , LRG_778:g.205337C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5841C>T | ENSP00000453958.2:p.Cys1947= | |
| ENST00000674301.2:c.5841C>T | ENSP00000501333.2:p.Cys1947= | |
| ENST00000684448.1:n.4515C>T | ||
| ENST00000316623.10:c.5841C>T MANE Select | ENSP00000325527.5:p.Cys1947= | |
| ENST00000674301.1:c.840C>T | ENSP00000501333.1:p.Cys280= | |
| ENST00000316623.9:c.5841C>T | ENSP00000325527.5:p.Cys1947= | |
| ENST00000537463.6:c.*1604C>T | ENSP00000440294.2:n.*1604C>T | |
| ENST00000559133.5:c.1148C>T | ||
| NM_000138.4:c.5841C>T , LRG_778t1:c.5841C>T | NP_000129.3:p.Cys1947= | |
| NM_000138.5:c.5841C>T MANE Select | NP_000129.3:p.Cys1947= |