Linked Data
ClinVar Variation Id:
759132
ClinVar RCV Id:
RCV001482836
dbSNP Id:
rs1595817219
gnomAD v4:
15-68209750-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68209750G>A , CM000677.2:g.68209750G>A | GRCh38 |
| NC_000015.9:g.68502088G>A , CM000677.1:g.68502088G>A | GRCh37 |
| NC_000015.8:g.66289142G>A | NCBI36 |
| NG_008764.2:g.52462C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.552C>T MANE Select | ENSP00000249806.5:p.Pro184= | |
| ENST00000562767.2:c.84-12122C>T | ENSP00000456336.1:n.84-12122C>T | |
| ENST00000563917.2:n.394C>T | ||
| ENST00000565471.6:c.93C>T | ENSP00000457384.1:p.Pro31= | |
| ENST00000635747.1:c.*455C>T | ENSP00000490627.1:n.*455C>T | |
| ENST00000636212.1:c.*222C>T | ENSP00000489851.1:n.*222C>T | |
| ENST00000636314.1:c.248C>T | ENSP00000490295.1:p.Pro83Leu | |
| ENST00000636674.1:n.1654C>T | ||
| ENST00000636964.1:n.2080C>T | ||
| ENST00000637054.1:c.198+8786C>T | ENSP00000490807.1:n.198+8786C>T | |
| ENST00000637223.1:c.*266C>T | ENSP00000490010.1:n.*266C>T | |
| ENST00000637329.1:c.521C>T | ||
| ENST00000637450.1:c.*206C>T | ENSP00000490204.1:n.*206C>T | |
| ENST00000637494.1:c.264C>T | ENSP00000490057.1:p.Pro88= | |
| ENST00000637667.1:c.453C>T | ENSP00000489843.1:p.Pro151= | |
| ENST00000637823.1:c.377C>T | ||
| ENST00000637888.1:c.198+8786C>T | ENSP00000490546.1:n.198+8786C>T | |
| ENST00000638076.1:c.*155C>T | ENSP00000490373.1:n.*155C>T | |
| ENST00000638144.1:n.195C>T | ||
| ENST00000646164.1:c.38+8786C>T | ||
| ENST00000249806.9:c.552C>T | ENSP00000249806.5:p.Pro184= | |
| ENST00000538696.5:c.648C>T | ENSP00000445770.1:p.Pro216= | |
| ENST00000562767.1:c.84-12122C>T | ENSP00000456336.1:n.84-12122C>T | |
| ENST00000563917.1:n.452C>T | ||
| ENST00000564752.1:c.578C>T | ENSP00000457822.1:p.Pro193Leu | |
| ENST00000565471.5:c.93C>T | ENSP00000457384.1:p.Pro31= | |
| ENST00000566347.5:c.363C>T | ENSP00000457783.1:p.Pro121= | |
| ENST00000567060.5:c.298-30C>T | ENSP00000454818.1:n.298-30C>T | |
| NM_017882.2:c.552C>T | NP_060352.1:p.Pro184= | |
| XR_931861.1:n.774C>T | ||
| NM_017882.3:c.552C>T MANE Select | NP_060352.1:p.Pro184= |