Linked Data
ClinVar Variation Id:
2723792
ClinVar RCV Id:
RCV003508518
dbSNP Id:
rs1261992680
gnomAD v2:
3-15512134-G-A
gnomAD v4:
3-15470627-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15470627G>A , CM000665.2:g.15470627G>A | GRCh38 |
| NC_000003.11:g.15512134G>A , CM000665.1:g.15512134G>A | GRCh37 |
| NC_000003.10:g.15487138G>A | NCBI36 |
| NG_009032.1:g.56125C>T | |
| NG_009032.2:g.56125C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000383788.10:c.637-11C>T MANE Select | ENSP00000373298.3:n.637-11C>T | |
| ENST00000604401.2:n.633-11C>T | ||
| ENST00000679838.1:c.*399-11C>T | ENSP00000505708.1:n.*399-11C>T | |
| ENST00000680545.1:n.403-11C>T | ||
| ENST00000681097.1:c.637-11C>T | ENSP00000505397.1:n.637-11C>T | |
| ENST00000383781.8:c.607-11C>T | ENSP00000373291.3:n.607-11C>T | |
| ENST00000383786.9:c.535-11C>T | ENSP00000373296.3:n.535-11C>T | |
| ENST00000383788.9:c.637-11C>T | ENSP00000373298.3:n.637-11C>T | |
| ENST00000603808.5:c.637-11C>T | ENSP00000474271.1:n.637-11C>T | |
| ENST00000605797.1:c.466-11C>T | ENSP00000474936.1:n.466-11C>T | |
| NM_005677.3:c.637-11C>T | NP_005668.2:n.637-11C>T | |
| NM_080538.2:c.607-11C>T | NP_536799.1:n.607-11C>T | |
| NM_080539.3:c.535-11C>T | NP_536800.2:n.535-11C>T | |
| NM_005677.4:c.637-11C>T MANE Select | NP_005668.2:n.637-11C>T | |
| NM_080539.4:c.535-11C>T | NP_536800.2:n.535-11C>T |