Linked Data
ClinVar Variation Id:
1409575
ClinVar RCV Id:
RCV001913777
dbSNP Id:
rs1299549219
gnomAD v3:
5-178994836-C-T
gnomAD v4:
5-178994836-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178994836C>T , CM000667.2:g.178994836C>T | GRCh38 |
| NC_000005.9:g.178421837C>T , CM000667.1:g.178421837C>T | GRCh37 |
| NC_000005.8:g.178354443C>T | NCBI36 |
| NG_008105.1:g.5288G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.109G>A MANE Select | ENSP00000430767.1:p.Gly37Ser | |
| ENST00000650031.1:c.109G>A | ENSP00000497110.1:p.Gly37Ser | |
| ENST00000231188.9:c.109G>A | ENSP00000231188.5:p.Gly37Ser | |
| ENST00000517717.1:c.109G>A | ENSP00000430767.1:p.Gly37Ser | |
| NM_000843.3:c.109G>A | NP_000834.2:p.Gly37Ser | |
| NM_000843.4:c.109G>A MANE Select | NP_000834.2:p.Gly37Ser |