Linked Data
dbSNP Id:
rs1422557889
gnomAD v2:
3-15512065-C-T
gnomAD v3:
3-15470558-C-T
gnomAD v4:
3-15470558-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15470558C>T , CM000665.2:g.15470558C>T | GRCh38 |
| NC_000003.11:g.15512065C>T , CM000665.1:g.15512065C>T | GRCh37 |
| NC_000003.10:g.15487069C>T | NCBI36 |
| NG_009032.1:g.56194G>A | |
| NG_009032.2:g.56194G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383788.10:c.695G>A MANE Select | ENSP00000373298.3:p.Arg232Lys | |
| ENST00000604401.2:n.691G>A | ||
| ENST00000679838.1:c.*457G>A | ENSP00000505708.1:n.*457G>A | |
| ENST00000680545.1:n.461G>A | ||
| ENST00000681097.1:c.695G>A | ENSP00000505397.1:p.Arg232Lys | |
| ENST00000383781.8:c.665G>A | ENSP00000373291.3:p.Arg222Lys | |
| ENST00000383786.9:c.593G>A | ENSP00000373296.3:p.Arg198Lys | |
| ENST00000383788.9:c.695G>A | ENSP00000373298.3:p.Arg232Lys | |
| ENST00000603808.5:c.695G>A | ENSP00000474271.1:p.Arg232Lys | |
| ENST00000605797.1:c.524G>A | ENSP00000474936.1:p.Arg175Lys | |
| NM_005677.3:c.695G>A | NP_005668.2:p.Arg232Lys | |
| NM_080538.2:c.665G>A | NP_536799.1:p.Arg222Lys | |
| NM_080539.3:c.593G>A | NP_536800.2:p.Arg198Lys | |
| NM_005677.4:c.695G>A MANE Select | NP_005668.2:p.Arg232Lys | |
| NM_080539.4:c.593G>A | NP_536800.2:p.Arg198Lys |