Linked Data
ClinVar Variation Id:
1967191
ClinVar RCV Id:
RCV002721850
dbSNP Id:
rs545789577
ExAC:
5:134364487 C / A
gnomAD v2:
5-134364487-C-A
gnomAD v3:
5-135028797-C-A
gnomAD v4:
5-135028797-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028797C>A , CM000667.2:g.135028797C>A | GRCh38 |
| NC_000005.9:g.134364487C>A , CM000667.1:g.134364487C>A | GRCh37 |
| NC_000005.8:g.134392386C>A | NCBI36 |
| NG_012114.1:g.10478G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.927G>T MANE Select | ENSP00000265340.6:p.Ala309= | |
| ENST00000265340.11:c.927G>T | ENSP00000265340.6:p.Ala309= | |
| ENST00000506438.5:c.927G>T | ENSP00000427542.1:p.Ala309= | |
| NM_002653.4:c.927G>T | NP_002644.4:p.Ala309= | |
| NM_002653.5:c.927G>T MANE Select | NP_002644.4:p.Ala309= |