Linked Data
ClinVar Variation Id:
232751
ClinVar RCV Id:
RCV000220373
RCV000689822
RCV000678043
RCV001124420
RCV001123336
RCV001261774
RCV001312210
RCV001762494
RCV002311325
dbSNP Id:
rs876659967
gnomAD v2:
18-48584563-C-A
gnomAD v4:
18-51058193-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51058193C>A , CM000680.2:g.51058193C>A | GRCh38 |
| NC_000018.9:g.48584563C>A , CM000680.1:g.48584563C>A | GRCh37 |
| NC_000018.8:g.46838561C>A | NCBI36 |
| NG_013013.2:g.95154C>A , LRG_318:g.95154C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.736C>A | ENSP00000465878.2:p.Pro246Thr | |
| ENST00000589076.6:c.736C>A | ENSP00000466934.2:p.Pro246Thr | |
| ENST00000589941.2:c.736C>A | ENSP00000465874.2:p.Pro246Thr | |
| ENST00000590061.2:c.736C>A | ENSP00000464772.2:p.Pro246Thr | |
| ENST00000593223.2:c.736C>A | ENSP00000466118.2:p.Pro246Thr | |
| ENST00000611848.2:c.736C>A | ENSP00000478613.2:p.Pro246Thr | |
| ENST00000684953.1:n.2108C>A | ||
| ENST00000685232.1:n.844C>A | ||
| ENST00000688307.1:n.156-1673C>A | ||
| ENST00000688574.1:n.844C>A | ||
| ENST00000688903.1:n.950C>A | ||
| ENST00000690892.1:n.844C>A | ||
| ENST00000342988.8:c.736C>A MANE Select | ENSP00000341551.3:p.Pro246Thr | |
| ENST00000342988.7:c.736C>A | ENSP00000341551.3:p.Pro246Thr | |
| ENST00000398417.6:c.736C>A | ENSP00000381452.1:p.Pro246Thr | |
| ENST00000588745.5:c.667+3200C>A | ENSP00000464901.1:n.667+3200C>A | |
| ENST00000591126.5:n.2737C>A | ||
| ENST00000592186.5:c.736C>A | ENSP00000468611.1:p.Pro246Thr | |
| NM_005359.5:c.736C>A , LRG_318t1:c.736C>A | NP_005350.1:p.Pro246Thr | |
| NM_005359.6:c.736C>A MANE Select | NP_005350.1:p.Pro246Thr |