Linked Data
ClinVar Variation Id:
1154522
ClinVar RCV Id:
RCV001496526
dbSNP Id:
rs1603442079
MyVariant Identifiers:
chr22:g.50967956C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50529527C>G , CM000684.2:g.50529527C>G | GRCh38 |
| NC_000022.10:g.50967956C>G , CM000684.1:g.50967956C>G | GRCh37 |
| NC_000022.9:g.49314822C>G | NCBI36 |
| NG_011860.1:g.5559G>C , LRG_727:g.5559G>C | |
| NG_016235.1:g.1913G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252029.8:c.183G>C MANE Select | ENSP00000252029.3:p.Val61= | |
| ENST00000395680.6:c.183G>C | ENSP00000379037.1:p.Val61= | |
| ENST00000395681.6:c.183G>C | ENSP00000379038.1:p.Val61= | |
| ENST00000650719.1:c.183G>C | ENSP00000498276.1:p.Val61= | |
| ENST00000651095.1:n.322G>C | ||
| ENST00000651196.1:c.183G>C | ENSP00000499096.1:p.Val61= | |
| ENST00000651401.1:c.-1+377G>C | ENSP00000499115.1:n.-1+377G>C | |
| ENST00000651906.1:n.302G>C | ||
| ENST00000652237.1:n.302G>C | ||
| ENST00000252029.7:c.183G>C | ENSP00000252029.3:p.Val61= | |
| ENST00000395678.7:c.183G>C | ENSP00000379036.3:p.Val61= | |
| ENST00000395680.5:c.183G>C | ENSP00000379037.1:p.Val61= | |
| ENST00000395681.5:c.183G>C | ENSP00000379038.1:p.Val61= | |
| ENST00000425169.1:c.183G>C | ENSP00000395875.1:p.Val61= | |
| ENST00000476284.1:n.308G>C | ||
| ENST00000487162.1:n.314G>C | ||
| ENST00000487577.5:n.470G>C | ||
| NM_001113755.2:c.183G>C | NP_001107227.1:p.Val61= | |
| NM_001113756.2:c.183G>C | NP_001107228.1:p.Val61= | |
| NM_001257988.1:c.183G>C , LRG_727t1:c.183G>C | NP_001244917.1:p.Val61= | |
| NM_001257989.1:c.183G>C , LRG_727t2:c.183G>C | NP_001244918.1:p.Val61= | |
| NM_001953.4:c.183G>C | NP_001944.1:p.Val61= | |
| NM_001113755.3:c.183G>C | NP_001107227.1:p.Val61= | |
| NM_001113756.3:c.183G>C | NP_001107228.1:p.Val61= | |
| NM_001953.5:c.183G>C MANE Select | NP_001944.1:p.Val61= |