Linked Data
ClinVar Variation Id:
1363279
ClinVar RCV Id:
RCV001902171
dbSNP Id:
rs2125109848
gnomAD v4:
3-15470598-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15470598C>T , CM000665.2:g.15470598C>T | GRCh38 |
| NC_000003.11:g.15512105C>T , CM000665.1:g.15512105C>T | GRCh37 |
| NC_000003.10:g.15487109C>T | NCBI36 |
| NG_009032.1:g.56154G>A | |
| NG_009032.2:g.56154G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383788.10:c.655G>A MANE Select | ENSP00000373298.3:p.Gly219Ser | |
| ENST00000604401.2:n.651G>A | ||
| ENST00000679838.1:c.*417G>A | ENSP00000505708.1:n.*417G>A | |
| ENST00000680545.1:n.421G>A | ||
| ENST00000681097.1:c.655G>A | ENSP00000505397.1:p.Gly219Ser | |
| ENST00000383781.8:c.625G>A | ENSP00000373291.3:p.Gly209Ser | |
| ENST00000383786.9:c.553G>A | ENSP00000373296.3:p.Gly185Ser | |
| ENST00000383788.9:c.655G>A | ENSP00000373298.3:p.Gly219Ser | |
| ENST00000603808.5:c.655G>A | ENSP00000474271.1:p.Gly219Ser | |
| ENST00000605797.1:c.484G>A | ENSP00000474936.1:p.Gly162Ser | |
| NM_005677.3:c.655G>A | NP_005668.2:p.Gly219Ser | |
| NM_080538.2:c.625G>A | NP_536799.1:p.Gly209Ser | |
| NM_080539.3:c.553G>A | NP_536800.2:p.Gly185Ser | |
| NM_005677.4:c.655G>A MANE Select | NP_005668.2:p.Gly219Ser | |
| NM_080539.4:c.553G>A | NP_536800.2:p.Gly185Ser |