Linked Data
ClinVar Variation Id:
102637
dbSNP Id:
rs62509017
gnomAD v3:
12-102894846-T-G
gnomAD v4:
12-102894846-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894846T>G , CM000674.2:g.102894846T>G | GRCh38 |
| NC_000012.11:g.103288624T>G , CM000674.1:g.103288624T>G | GRCh37 |
| NC_000012.10:g.101812754T>G | NCBI36 |
| NG_008690.1:g.27757A>C | |
| NG_008690.2:g.68565A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.241A>C MANE Select | ENSP00000448059.1:p.Thr81Pro | |
| ENST00000307000.7:c.226A>C | ENSP00000303500.2:p.Thr76Pro | |
| ENST00000546844.1:c.241A>C | ENSP00000446658.1:p.Thr81Pro | |
| ENST00000548677.2:n.328A>C | ||
| ENST00000548928.1:n.163A>C | ||
| ENST00000549111.5:n.337A>C | ||
| ENST00000550978.6:c.225A>C | ||
| ENST00000551337.5:c.241A>C | ENSP00000447620.1:p.Thr81Pro | |
| ENST00000551988.5:n.330A>C | ||
| ENST00000553106.5:c.241A>C | ENSP00000448059.1:p.Thr81Pro | |
| NM_000277.1:c.241A>C | NP_000268.1:p.Thr81Pro | |
| XM_011538422.1:c.241A>C | XP_011536724.1:p.Thr81Pro | |
| NM_000277.2:c.241A>C | NP_000268.1:p.Thr81Pro | |
| NM_001354304.1:c.241A>C | NP_001341233.1:p.Thr81Pro | |
| XM_017019370.2:c.241A>C | XP_016874859.1:p.Thr81Pro | |
| NM_000277.3:c.241A>C MANE Select | NP_000268.1:p.Thr81Pro | |
| NM_001354304.2:c.241A>C | NP_001341233.1:p.Thr81Pro |