Linked Data
ClinVar Variation Id:
1479241
ClinVar RCV Id:
RCV001990898
dbSNP Id:
rs1381525257
gnomAD v4:
9-136504730-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504730G>T , CM000671.2:g.136504730G>T | GRCh38 |
| NC_000009.11:g.139399182G>T , CM000671.1:g.139399182G>T | GRCh37 |
| NC_000009.10:g.138519003G>T | NCBI36 |
| NG_007458.1:g.46057C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2768C>A | ||
| ENST00000651671.1:c.4961C>A MANE Select | ENSP00000498587.1:p.Pro1654His | |
| ENST00000679595.1:c.4961C>A | ENSP00000506241.1:p.Pro1654His | |
| ENST00000680133.1:c.4847C>A | ENSP00000505319.1:p.Pro1616His | |
| ENST00000680218.1:c.4841C>A | ENSP00000505339.1:p.Pro1614His | |
| ENST00000680668.1:c.4847C>A | ENSP00000506336.1:p.Pro1616His | |
| ENST00000680778.1:c.2558C>A | ENSP00000506033.1:p.Pro853His | |
| ENST00000680924.1:c.*2361C>A | ENSP00000506031.1:n.*2361C>A | |
| ENST00000681135.1:c.*2570C>A | ENSP00000506636.1:n.*2570C>A | |
| ENST00000681298.1:n.1774C>A | ||
| ENST00000681454.1:c.*4197C>A | ENSP00000505763.1:n.*4197C>A | |
| ENST00000277541.6:c.4961C>A | ENSP00000277541.6:p.Pro1654His | |
| ENST00000494783.1:n.116C>A | ||
| NM_017617.3:c.4961C>A | NP_060087.3:p.Pro1654His | |
| XM_011518717.1:c.4262C>A | XP_011517019.1:p.Pro1421His | |
| NM_017617.5:c.4961C>A MANE Select | NP_060087.3:p.Pro1654His | |
| XM_011518717.2:c.4238C>A | XP_011517019.2:p.Pro1413His |