Linked Data
ClinVar Variation Id:
374872
ClinVar RCV Id:
RCV000415558
dbSNP Id:
rs1057519280
PubMed:
PMID:27839873
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35733761A>G , CM000681.2:g.35733761A>G | GRCh38 |
| NC_000019.9:g.36224662A>G , CM000681.1:g.36224662A>G | GRCh37 |
| NC_000019.8:g.40916502A>G | NCBI36 |
| NG_052906.1:g.20743A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000592092.2:n.1518A>G | ||
| ENST00000673918.2:c.6984-2A>G | ENSP00000501283.1:n.6984-2A>G | |
| ENST00000674114.2:c.4591-2A>G | ENSP00000501039.2:n.4591-2A>G | |
| ENST00000684977.1:c.2245-2A>G | ENSP00000509384.1:n.2245-2A>G | |
| ENST00000689544.1:n.2291-2A>G | ||
| ENST00000691421.1:c.2181-2A>G | ENSP00000508674.1:n.2181-2A>G | |
| ENST00000691855.1:c.6592-2A>G | ||
| ENST00000692961.1:c.6972A>G | ENSP00000509289.1:p.Ala2324= | |
| ENST00000693677.1:c.795-2A>G | ENSP00000509779.1:n.795-2A>G | |
| ENST00000420124.4:c.7050-2A>G MANE Select | ENSP00000398837.2:n.7050-2A>G | |
| ENST00000673918.1:c.6984-2A>G | ENSP00000501283.1:n.6984-2A>G | |
| ENST00000674114.1:c.4372-2A>G | ||
| ENST00000420124.2:c.7050-2A>G | ENSP00000398837.1:n.7050-2A>G | |
| ENST00000592092.1:n.430-2A>G | ||
| NM_014727.2:c.7050-2A>G | NP_055542.1:n.7050-2A>G | |
| XM_011527561.1:c.6984-2A>G | XP_011525863.1:n.6984-2A>G | |
| XM_011527562.1:c.7050-2A>G | XP_011525864.1:n.7050-2A>G | |
| XM_011527563.1:c.6774-2A>G | XP_011525865.1:n.6774-2A>G | |
| XM_011527561.2:c.6486-2A>G | XP_011525863.2:n.6486-2A>G | |
| XM_011527562.2:c.7050-2A>G | XP_011525864.1:n.7050-2A>G | |
| XM_017027544.1:c.6960-2A>G | XP_016883033.1:n.6960-2A>G | |
| XM_017027545.1:c.6486-2A>G | XP_016883034.1:n.6486-2A>G | |
| XM_017027546.1:c.4014-2A>G | XP_016883035.1:n.4014-2A>G | |
| NM_014727.3:c.7050-2A>G MANE Select | NP_055542.1:n.7050-2A>G |