Linked Data
ClinVar Variation Id:
374919
ClinVar RCV Id:
RCV000415552
dbSNP Id:
rs1057519306
PubMed:
PMID:28089251
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.41819594G>A , CM000677.2:g.41819594G>A | GRCh38 |
| NC_000015.9:g.42111792G>A , CM000677.1:g.42111792G>A | GRCh37 |
| NC_000015.8:g.39899084G>A | NCBI36 |
| NG_054745.1:g.50161G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000457542.7:c.2426-1G>A MANE Select | ENSP00000397570.2:n.2426-1G>A | |
| ENST00000456763.6:c.2444-1G>A | ENSP00000393099.2:n.2444-1G>A | |
| ENST00000457542.6:c.2426-1G>A | ENSP00000397570.2:n.2426-1G>A | |
| ENST00000505061.5:n.3088G>A | ||
| ENST00000505373.5:c.*1977-1G>A | ENSP00000421891.1:n.*1977-1G>A | |
| ENST00000512970.5:c.*1240-1G>A | ENSP00000427582.1:n.*1240-1G>A | |
| ENST00000514566.5:c.2426-1G>A | ENSP00000426154.1:n.2426-1G>A | |
| NM_001128608.1:c.2444-1G>A | NP_001122080.1:n.2444-1G>A | |
| NM_001265611.1:c.2426-1G>A | NP_001252540.1:n.2426-1G>A | |
| NM_014994.2:c.2426-1G>A | NP_055809.2:n.2426-1G>A | |
| NR_049761.1:n.2522-1G>A | ||
| NR_049762.1:n.2473-1G>A | ||
| XM_006720438.1:c.2279-1G>A | XP_006720501.1:n.2279-1G>A | |
| XM_006720439.2:c.695-1G>A | XP_006720502.1:n.695-1G>A | |
| XM_011521382.1:c.2444-1G>A | XP_011519684.1:n.2444-1G>A | |
| XM_011521383.1:c.2297-1G>A | XP_011519685.1:n.2297-1G>A | |
| XM_011521384.1:c.2444-1G>A | XP_011519686.1:n.2444-1G>A | |
| XM_011521385.1:c.2444-1G>A | XP_011519687.1:n.2444-1G>A | |
| XM_006720438.2:c.2279-1G>A | XP_006720501.1:n.2279-1G>A | |
| XM_011521383.2:c.2297-1G>A | XP_011519685.1:n.2297-1G>A | |
| XM_011521384.3:c.2444-1G>A | XP_011519686.1:n.2444-1G>A | |
| XM_017022017.1:c.2297-1G>A | XP_016877506.1:n.2297-1G>A | |
| XR_001751156.2:n.2692-1G>A | ||
| XR_001751157.2:n.2692-1G>A | ||
| XR_001751159.2:n.2692-1G>A | ||
| NM_014994.3:c.2426-1G>A MANE Select | NP_055809.2:n.2426-1G>A | |
| NM_001128608.2:c.2444-1G>A | NP_001122080.1:n.2444-1G>A | |
| NM_001265611.2:c.2426-1G>A | NP_001252540.1:n.2426-1G>A | |
| NR_049761.2:n.2472-1G>A | ||
| NR_049762.2:n.2423-1G>A |