Linked Data
ClinVar Variation Id:
1105685
ClinVar RCV Id:
RCV001430178
dbSNP Id:
rs1424652340
gnomAD v4:
9-34517365-C-A
MyVariant Identifiers:
chr9:g.34517363C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34517365C>A , CM000671.2:g.34517365C>A | GRCh38 |
| NC_000009.11:g.34517363C>A , CM000671.1:g.34517363C>A | GRCh37 |
| NC_000009.10:g.34507363C>A | NCBI36 |
| NG_008127.1:g.63553C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242317.9:c.1899C>A MANE Select | ENSP00000242317.4:p.Thr633= | |
| ENST00000242317.8:c.1899C>A | ENSP00000242317.4:p.Thr633= | |
| ENST00000442556.1:c.329+2626C>A | ||
| ENST00000470169.5:c.687C>A | ||
| ENST00000485580.1:n.475C>A | ||
| ENST00000614641.4:c.1911C>A | ENSP00000480538.1:p.Thr637= | |
| NM_001281428.1:c.1911C>A | NP_001268357.1:p.Thr637= | |
| NM_012144.3:c.1899C>A | NP_036276.1:p.Thr633= | |
| XM_006716758.2:c.1368C>A | XP_006716821.1:p.Thr456= | |
| XM_011517848.1:c.1653C>A | XP_011516150.1:p.Thr551= | |
| XM_006716758.3:c.1368C>A | XP_006716821.1:p.Thr456= | |
| XM_011517848.2:c.1653C>A | XP_011516150.1:p.Thr551= | |
| XM_017014625.2:c.1641C>A | XP_016870114.1:p.Thr547= | |
| XR_002956774.1:n.2002C>A | ||
| NM_012144.4:c.1899C>A MANE Select | NP_036276.1:p.Thr633= | |
| NM_001281428.2:c.1911C>A | NP_001268357.1:p.Thr637= |