Linked Data
ClinVar Variation Id:
372984
ClinVar RCV Id:
RCV003766151
dbSNP Id:
rs1057518119
gnomAD v4:
6-129314799-G-A
COSMIC:
COSM3620465
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129314799G>A , CM000668.2:g.129314799G>A | GRCh38 |
| NC_000006.11:g.129635944G>A , CM000668.1:g.129635944G>A | GRCh37 |
| NC_000006.10:g.129677637G>A | NCBI36 |
| NG_008678.1:g.436659G>A , LRG_409:g.436659G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617695.5:c.3555+1G>A | ENSP00000481744.2:n.3555+1G>A | |
| ENST00000618192.5:c.3819+1G>A | ENSP00000480802.2:n.3819+1G>A | |
| ENST00000421865.3:c.3555+1G>A MANE Select | ENSP00000400365.2:n.3555+1G>A | |
| ENST00000421865.2:c.3555+1G>A | ENSP00000400365.2:n.3555+1G>A | |
| ENST00000617695.4:c.3555+1G>A | ENSP00000481744.1:n.3555+1G>A | |
| ENST00000618192.4:c.3555+1G>A | ENSP00000480802.1:n.3555+1G>A | |
| NM_000426.3:c.3555+1G>A , LRG_409t1:c.3555+1G>A | NP_000417.2:n.3555+1G>A | |
| NM_001079823.1:c.3555+1G>A | NP_001073291.1:n.3555+1G>A | |
| XM_005266981.2:c.3819+1G>A | XP_005267038.1:n.3819+1G>A | |
| XM_005266982.2:c.3819+1G>A | XP_005267039.1:n.3819+1G>A | |
| XM_011535820.1:c.3819+1G>A | XP_011534122.1:n.3819+1G>A | |
| XM_005266981.3:c.3819+1G>A | XP_005267038.1:n.3819+1G>A | |
| XM_005266982.3:c.3819+1G>A | XP_005267039.1:n.3819+1G>A | |
| XM_011535820.2:c.3819+1G>A | XP_011534122.1:n.3819+1G>A | |
| XM_017010851.2:c.3825+1G>A | XP_016866340.1:n.3825+1G>A | |
| XM_017010852.1:c.1950+1G>A | XP_016866341.1:n.1950+1G>A | |
| XM_017010853.1:c.3819+1G>A | XP_016866342.1:n.3819+1G>A | |
| NM_000426.4:c.3555+1G>A MANE Select | NP_000417.3:n.3555+1G>A | |
| NM_001079823.2:c.3555+1G>A | NP_001073291.2:n.3555+1G>A |