Linked Data
ClinVar Variation Id:
102625
dbSNP Id:
rs5030842
ExAC:
12:103288666 A / G
gnomAD v2:
12-103288666-A-G
gnomAD v4:
12-102894888-A-G
ERepo:
CA229481/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894888A>G , CM000674.2:g.102894888A>G | GRCh38 |
| NC_000012.11:g.103288666A>G , CM000674.1:g.103288666A>G | GRCh37 |
| NC_000012.10:g.101812796A>G | NCBI36 |
| NG_008690.1:g.27715T>C | |
| NG_008690.2:g.68523T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.199T>C MANE Select | ENSP00000448059.1:p.Ser67Pro | |
| ENST00000307000.7:c.184T>C | ENSP00000303500.2:p.Ser62Pro | |
| ENST00000546844.1:c.199T>C | ENSP00000446658.1:p.Ser67Pro | |
| ENST00000548677.2:n.286T>C | ||
| ENST00000548928.1:n.121T>C | ||
| ENST00000549111.5:n.295T>C | ||
| ENST00000550978.6:c.183T>C | ||
| ENST00000551337.5:c.199T>C | ENSP00000447620.1:p.Ser67Pro | |
| ENST00000551988.5:n.288T>C | ||
| ENST00000553106.5:c.199T>C | ENSP00000448059.1:p.Ser67Pro | |
| ENST00000635500.1:n.167T>C | ||
| NM_000277.1:c.199T>C | NP_000268.1:p.Ser67Pro | |
| XM_011538422.1:c.199T>C | XP_011536724.1:p.Ser67Pro | |
| NM_000277.2:c.199T>C | NP_000268.1:p.Ser67Pro | |
| NM_001354304.1:c.199T>C | NP_001341233.1:p.Ser67Pro | |
| XM_017019370.2:c.199T>C | XP_016874859.1:p.Ser67Pro | |
| NM_000277.3:c.199T>C MANE Select | NP_000268.1:p.Ser67Pro | |
| NM_001354304.2:c.199T>C | NP_001341233.1:p.Ser67Pro |