Linked Data
ClinVar Variation Id:
6649
ClinVar RCV Id:
RCV000007028
dbSNP Id:
rs104893733
ExAC:
3:15512120 C / A
gnomAD v2:
3-15512120-C-A
gnomAD v3:
3-15470613-C-A
gnomAD v4:
3-15470613-C-A
PubMed:
PMID:9689136
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15470613C>A , CM000665.2:g.15470613C>A | GRCh38 |
| NC_000003.11:g.15512120C>A , CM000665.1:g.15512120C>A | GRCh37 |
| NC_000003.10:g.15487124C>A | NCBI36 |
| NG_009032.1:g.56139G>T | |
| NG_009032.2:g.56139G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000383788.10:c.640G>T MANE Select | ENSP00000373298.3:p.Glu214Ter | |
| ENST00000604401.2:n.636G>T | ||
| ENST00000679838.1:c.*402G>T | ENSP00000505708.1:n.*402G>T | |
| ENST00000680545.1:n.406G>T | ||
| ENST00000681097.1:c.640G>T | ENSP00000505397.1:p.Glu214Ter | |
| ENST00000383781.8:c.610G>T | ENSP00000373291.3:p.Glu204Ter | |
| ENST00000383786.9:c.538G>T | ENSP00000373296.3:p.Glu180Ter | |
| ENST00000383788.9:c.640G>T | ENSP00000373298.3:p.Glu214Ter | |
| ENST00000603808.5:c.640G>T | ENSP00000474271.1:p.Glu214Ter | |
| ENST00000605797.1:c.469G>T | ENSP00000474936.1:p.Glu157Ter | |
| NM_005677.3:c.640G>T | NP_005668.2:p.Glu214Ter | |
| NM_080538.2:c.610G>T | NP_536799.1:p.Glu204Ter | |
| NM_080539.3:c.538G>T | NP_536800.2:p.Glu180Ter | |
| NM_005677.4:c.640G>T MANE Select | NP_005668.2:p.Glu214Ter | |
| NM_080539.4:c.538G>T | NP_536800.2:p.Glu180Ter |