Linked Data
ClinVar Variation Id:
3007834
ClinVar RCV Id:
RCV003864433
dbSNP Id:
rs778410965
ExAC:
12:53701366 G / A
gnomAD v2:
12-53701366-G-A
gnomAD v4:
12-53307582-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307582G>A , CM000674.2:g.53307582G>A | GRCh38 |
| NC_000012.11:g.53701366G>A , CM000674.1:g.53701366G>A | GRCh37 |
| NC_000012.10:g.51987633G>A | NCBI36 |
| NG_016775.1:g.19047C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1548C>T MANE Select | ENSP00000209873.4:p.Pro516= | |
| ENST00000546562.6:n.2612C>T | ||
| ENST00000547238.6:n.2184C>T | ||
| ENST00000547520.6:n.1664C>T | ||
| ENST00000547757.2:c.*466C>T | ENSP00000448020.2:n.*466C>T | |
| ENST00000548931.6:c.983C>T | ENSP00000457518.1:p.Pro328Leu | |
| ENST00000549450.6:n.1482C>T | ||
| ENST00000672797.1:n.2037C>T | ||
| ENST00000209873.8:c.1548C>T | ENSP00000209873.4:p.Pro516= | |
| ENST00000394384.7:c.1449C>T | ENSP00000377908.3:p.Pro483= | |
| ENST00000548931.5:c.983C>T | ENSP00000457518.1:p.Pro328Leu | |
| ENST00000550286.5:c.1176C>T | ENSP00000446885.1:p.Pro392= | |
| ENST00000552876.5:n.1891C>T | ||
| NM_001173466.1:c.1449C>T | NP_001166937.1:p.Pro483= | |
| NM_015665.5:c.1548C>T | NP_056480.1:p.Pro516= | |
| XM_006719617.2:c.1563C>T | XP_006719680.1:p.Pro521= | |
| XM_011538777.1:c.1605C>T | XP_011537079.1:p.Pro535= | |
| XM_011538778.1:c.1590C>T | XP_011537080.1:p.Pro530= | |
| XM_011538779.1:c.1506C>T | XP_011537081.1:p.Pro502= | |
| XM_011538780.1:c.1491C>T | XP_011537082.1:p.Pro497= | |
| XM_011538781.1:c.939C>T | XP_011537083.1:p.Pro313= | |
| XM_011538778.2:c.1590C>T | XP_011537080.1:p.Pro530= | |
| XM_011538780.2:c.1491C>T | XP_011537082.1:p.Pro497= | |
| XR_001748875.2:n.1605C>T | ||
| NM_015665.6:c.1548C>T MANE Select | NP_056480.1:p.Pro516= | |
| NM_001173466.2:c.1449C>T | NP_001166937.1:p.Pro483= |