Linked Data
ClinVar Variation Id:
948490
ClinVar RCV Id:
RCV001219754
dbSNP Id:
rs1749811506
gnomAD v4:
5-80675105-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80675105G>A , CM000667.2:g.80675105G>A | GRCh38 |
| NC_000005.9:g.79970924G>A , CM000667.1:g.79970924G>A | GRCh37 |
| NC_000005.8:g.80006680G>A | NCBI36 |
| NG_016607.1:g.25631G>A | |
| NG_016607.2:g.25631G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265081.7:c.1150G>A MANE Select | ENSP00000265081.6:p.Gly384Ser | |
| ENST00000658259.1:c.982G>A | ENSP00000499617.1:p.Gly328Ser | |
| ENST00000667069.1:c.1150G>A | ENSP00000499502.1:p.Gly384Ser | |
| ENST00000670357.1:c.1150G>A | ENSP00000499791.1:p.Gly384Ser | |
| ENST00000265081.6:c.1150G>A | ENSP00000265081.6:p.Gly384Ser | |
| NM_002439.4:c.1150G>A | NP_002430.3:p.Gly384Ser | |
| NM_002439.5:c.1150G>A MANE Select | NP_002430.3:p.Gly384Ser |