Linked Data
ClinVar Variation Id:
2449397
ClinVar RCV Id:
RCV003171139
dbSNP Id:
rs997721675
gnomAD v2:
10-112540736-C-A
gnomAD v4:
10-110780978-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110780978C>A , CM000672.2:g.110780978C>A | GRCh38 |
| NC_000010.10:g.112540736C>A , CM000672.1:g.112540736C>A | GRCh37 |
| NC_000010.9:g.112530726C>A | NCBI36 |
| NG_021177.1:g.141582C>A , LRG_382:g.141582C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.369C>A MANE Select | ENSP00000358532.3:p.Val123= | |
| ENST00000369519.3:c.369C>A | ENSP00000358532.3:p.Val123= | |
| NM_001134363.2:c.369C>A | NP_001127835.2:p.Val123= | |
| XM_011539697.1:c.-16C>A | XP_011537999.1:n.-16C>A | |
| XM_017016103.2:c.204C>A | XP_016871592.1:p.Val68= | |
| XM_017016104.2:c.-16C>A | XP_016871593.1:n.-16C>A | |
| NM_001134363.3:c.369C>A MANE Select | NP_001127835.2:p.Val123= |