Linked Data
ClinVar Variation Id:
309733
dbSNP Id:
rs145196232
ExAC:
12:53703033 G / C
gnomAD v2:
12-53703033-G-C
gnomAD v3:
12-53309249-G-C
gnomAD v4:
12-53309249-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53309249G>C , CM000674.2:g.53309249G>C | GRCh38 |
| NC_000012.11:g.53703033G>C , CM000674.1:g.53703033G>C | GRCh37 |
| NC_000012.10:g.51989300G>C | NCBI36 |
| NG_016775.1:g.17380C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.843C>G MANE Select | ENSP00000209873.4:p.Pro281= | |
| ENST00000546393.7:n.1688C>G | ||
| ENST00000546562.6:n.1907C>G | ||
| ENST00000547238.6:n.1479C>G | ||
| ENST00000547520.6:n.837C>G | ||
| ENST00000547757.2:c.-109C>G | ENSP00000448020.2:n.-109C>G | |
| ENST00000548880.2:n.1293C>G | ||
| ENST00000548931.6:c.363C>G | ENSP00000457518.1:p.Pro121= | |
| ENST00000549450.6:n.777C>G | ||
| ENST00000552161.6:n.1799C>G | ||
| ENST00000672797.1:n.1296C>G | ||
| ENST00000672900.1:n.1641C>G | ||
| ENST00000209873.8:c.843C>G | ENSP00000209873.4:p.Pro281= | |
| ENST00000394384.7:c.744C>G | ENSP00000377908.3:p.Pro248= | |
| ENST00000546393.6:n.740C>G | ||
| ENST00000546572.1:n.295C>G | ||
| ENST00000547520.5:n.547C>G | ||
| ENST00000547757.1:c.744C>G | ENSP00000448020.1:p.Pro248= | |
| ENST00000547761.6:n.735C>G | ||
| ENST00000548931.5:c.363C>G | ENSP00000457518.1:p.Pro121= | |
| ENST00000550033.5:n.98C>G | ||
| ENST00000550286.5:c.471C>G | ENSP00000446885.1:p.Pro157= | |
| ENST00000552876.5:n.1186C>G | ||
| NM_001173466.1:c.744C>G | NP_001166937.1:p.Pro248= | |
| NM_015665.5:c.843C>G | NP_056480.1:p.Pro281= | |
| XM_006719617.2:c.858C>G | XP_006719680.1:p.Pro286= | |
| XM_006719619.2:c.858C>G | XP_006719682.1:p.Pro286= | |
| XM_011538777.1:c.858C>G | XP_011537079.1:p.Pro286= | |
| XM_011538778.1:c.843C>G | XP_011537080.1:p.Pro281= | |
| XM_011538779.1:c.759C>G | XP_011537081.1:p.Pro253= | |
| XM_011538780.1:c.744C>G | XP_011537082.1:p.Pro248= | |
| XM_011538781.1:c.192C>G | XP_011537083.1:p.Pro64= | |
| XM_011538778.2:c.843C>G | XP_011537080.1:p.Pro281= | |
| XM_011538780.2:c.744C>G | XP_011537082.1:p.Pro248= | |
| XR_001748875.2:n.864C>G | ||
| NM_015665.6:c.843C>G MANE Select | NP_056480.1:p.Pro281= | |
| NM_001173466.2:c.744C>G | NP_001166937.1:p.Pro248= |