Linked Data
dbSNP Id:
rs770815082
gnomAD v4:
8-54628082-C-G
MyVariant Identifiers:
chr8:g.55540642C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54628082C>G , CM000670.2:g.54628082C>G | GRCh38 |
| NC_000008.10:g.55540642C>G , CM000670.1:g.55540642C>G | GRCh37 |
| NC_000008.9:g.55703195C>G | NCBI36 |
| NG_009840.1:g.17016C>G | |
| NG_009840.2:g.17016C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220676.2:c.4200C>G MANE Select | ENSP00000220676.1:p.Gly1400= | |
| ENST00000636932.1:c.787+5794C>G | ENSP00000489857.1:n.787+5794C>G | |
| ENST00000637698.1:c.787+5794C>G | ENSP00000490104.1:n.787+5794C>G | |
| ENST00000220676.1:c.4200C>G | ENSP00000220676.1:p.Gly1400= | |
| NM_006269.1:c.4200C>G | NP_006260.1:p.Gly1400= | |
| XM_017013721.1:c.4221C>G | XP_016869210.1:p.Gly1407= | |
| XM_017013722.1:c.4200C>G | XP_016869211.1:p.Gly1400= | |
| NM_001375654.1:c.787+5794C>G | NP_001362583.1:n.787+5794C>G | |
| NM_006269.2:c.4200C>G MANE Select | NP_006260.1:p.Gly1400= |