Linked Data
ClinVar Variation Id:
378973
ClinVar RCV Id:
RCV000435398
RCV000579563
RCV001125428
RCV001477273
RCV001125429
RCV001125427
RCV002374637
dbSNP Id:
rs753358186
ExAC:
18:48584798 G / A
gnomAD v2:
18-48584798-G-A
gnomAD v3:
18-51058428-G-A
gnomAD v4:
18-51058428-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51058428G>A , CM000680.2:g.51058428G>A | GRCh38 |
| NC_000018.9:g.48584798G>A , CM000680.1:g.48584798G>A | GRCh37 |
| NC_000018.8:g.46838796G>A | NCBI36 |
| NG_013013.2:g.95389G>A , LRG_318:g.95389G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.876G>A | ENSP00000465878.2:p.Pro292= | |
| ENST00000589076.6:c.876G>A | ENSP00000466934.2:p.Pro292= | |
| ENST00000589941.2:c.876G>A | ENSP00000465874.2:p.Pro292= | |
| ENST00000590061.2:c.876G>A | ENSP00000464772.2:p.Pro292= | |
| ENST00000593223.2:c.876G>A | ENSP00000466118.2:p.Pro292= | |
| ENST00000611848.2:c.876G>A | ENSP00000478613.2:p.Pro292= | |
| ENST00000684953.1:n.2248G>A | ||
| ENST00000685232.1:n.984G>A | ||
| ENST00000688307.1:n.156-1438G>A | ||
| ENST00000688574.1:n.984G>A | ||
| ENST00000688903.1:n.1090G>A | ||
| ENST00000690892.1:n.984G>A | ||
| ENST00000342988.8:c.876G>A MANE Select | ENSP00000341551.3:p.Pro292= | |
| ENST00000342988.7:c.876G>A | ENSP00000341551.3:p.Pro292= | |
| ENST00000398417.6:c.876G>A | ENSP00000381452.1:p.Pro292= | |
| ENST00000588745.5:c.667+3435G>A | ENSP00000464901.1:n.667+3435G>A | |
| ENST00000591126.5:n.2877G>A | ||
| ENST00000592186.5:c.876G>A | ENSP00000468611.1:p.Pro292= | |
| ENST00000611848.1:c.76G>A | ||
| NM_005359.5:c.876G>A , LRG_318t1:c.876G>A | NP_005350.1:p.Pro292= | |
| NM_005359.6:c.876G>A MANE Select | NP_005350.1:p.Pro292= |