Linked Data
dbSNP Id:
rs781736167
ExAC:
3:15512091 T / G
gnomAD v3:
3-15470584-T-G
gnomAD v4:
3-15470584-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15470584T>G , CM000665.2:g.15470584T>G | GRCh38 |
| NC_000003.11:g.15512091T>G , CM000665.1:g.15512091T>G | GRCh37 |
| NC_000003.10:g.15487095T>G | NCBI36 |
| NG_009032.1:g.56168A>C | |
| NG_009032.2:g.56168A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383788.10:c.669A>C MANE Select | ENSP00000373298.3:p.Ile223= | |
| ENST00000604401.2:n.665A>C | ||
| ENST00000679838.1:c.*431A>C | ENSP00000505708.1:n.*431A>C | |
| ENST00000680545.1:n.435A>C | ||
| ENST00000681097.1:c.669A>C | ENSP00000505397.1:p.Ile223= | |
| ENST00000383781.8:c.639A>C | ENSP00000373291.3:p.Ile213= | |
| ENST00000383786.9:c.567A>C | ENSP00000373296.3:p.Ile189= | |
| ENST00000383788.9:c.669A>C | ENSP00000373298.3:p.Ile223= | |
| ENST00000603808.5:c.669A>C | ENSP00000474271.1:p.Ile223= | |
| ENST00000605797.1:c.498A>C | ENSP00000474936.1:p.Ile166= | |
| NM_005677.3:c.669A>C | NP_005668.2:p.Ile223= | |
| NM_080538.2:c.639A>C | NP_536799.1:p.Ile213= | |
| NM_080539.3:c.567A>C | NP_536800.2:p.Ile189= | |
| NM_005677.4:c.669A>C MANE Select | NP_005668.2:p.Ile223= | |
| NM_080539.4:c.567A>C | NP_536800.2:p.Ile189= |