Linked Data
ClinVar Variation Id:
805805
ClinVar RCV Id:
RCV000993600
dbSNP Id:
rs199475662
ERepo:
CA16020721/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917072T>G , CM000674.2:g.102917072T>G | GRCh38 |
| NC_000012.11:g.103310850T>G , CM000674.1:g.103310850T>G | GRCh37 |
| NC_000012.10:g.101834980T>G | NCBI36 |
| NG_008690.1:g.5531A>C | |
| NG_008690.2:g.46339A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.59A>C MANE Select | ENSP00000448059.1:p.Gln20Pro | |
| ENST00000307000.7:c.-89A>C | ENSP00000303500.2:n.-89A>C | |
| ENST00000546844.1:c.59A>C | ENSP00000446658.1:p.Gln20Pro | |
| ENST00000547319.1:n.370A>C | ||
| ENST00000549111.5:n.155A>C | ||
| ENST00000550978.6:c.43A>C | ||
| ENST00000551337.5:c.59A>C | ENSP00000447620.1:p.Gln20Pro | |
| ENST00000551988.5:n.148A>C | ||
| ENST00000553106.5:c.59A>C | ENSP00000448059.1:p.Gln20Pro | |
| ENST00000635500.1:n.29-4174A>C | ||
| NM_000277.1:c.59A>C | NP_000268.1:p.Gln20Pro | |
| XM_011538422.1:c.59A>C | XP_011536724.1:p.Gln20Pro | |
| NM_000277.2:c.59A>C | NP_000268.1:p.Gln20Pro | |
| NM_001354304.1:c.59A>C | NP_001341233.1:p.Gln20Pro | |
| XM_017019370.2:c.59A>C | XP_016874859.1:p.Gln20Pro | |
| NM_000277.3:c.59A>C MANE Select | NP_000268.1:p.Gln20Pro | |
| NM_001354304.2:c.59A>C | NP_001341233.1:p.Gln20Pro |