Linked Data
ClinVar Variation Id:
1345965
ClinVar RCV Id:
RCV002029763
dbSNP Id:
rs751202112
gnomAD v4:
7-147132383-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147132383G>A , CM000669.2:g.147132383G>A | GRCh38 |
| NC_000007.13:g.146829475G>A , CM000669.1:g.146829475G>A | GRCh37 |
| NC_000007.12:g.146460408G>A | NCBI36 |
| NG_007092.2:g.1021023G>A | |
| NG_007092.3:g.1021383G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1222G>A MANE Select | ENSP00000354778.3:p.Gly408Ser | |
| ENST00000636561.1:n.1125G>A | ||
| ENST00000636870.1:n.1084G>A | ||
| ENST00000637150.1:n.1151G>A | ||
| ENST00000637694.1:n.1125G>A | ||
| ENST00000637825.1:n.705G>A | ||
| ENST00000638117.1:n.1125G>A | ||
| ENST00000361727.7:c.1222G>A | ENSP00000354778.3:p.Gly408Ser | |
| NM_014141.5:c.1222G>A | NP_054860.1:p.Gly408Ser | |
| XM_017011950.2:c.1222G>A | XP_016867439.1:p.Gly408Ser | |
| NM_014141.6:c.1222G>A MANE Select | NP_054860.1:p.Gly408Ser |