Linked Data
ClinVar Variation Id:
4887
ClinVar RCV Id:
RCV000005165
dbSNP Id:
rs267606555
gnomAD v4:
11-67490037-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490037G>A , CM000673.2:g.67490037G>A | GRCh38 |
| NC_000011.9:g.67257508G>A , CM000673.1:g.67257508G>A | GRCh37 |
| NC_000011.8:g.67014084G>A | NCBI36 |
| NG_008969.1:g.12004G>A , LRG_460:g.12004G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.446-1G>A | ||
| ENST00000528641.7:c.280-1G>A | ENSP00000434982.3:n.280-1G>A | |
| ENST00000529797.2:n.980G>A | ||
| ENST00000682324.1:c.468+582G>A | ENSP00000508017.1:n.468+582G>A | |
| ENST00000682659.1:c.100-1G>A | ENSP00000507351.1:n.100-1G>A | |
| ENST00000682699.1:c.469-1G>A | ENSP00000507935.1:n.469-1G>A | |
| ENST00000683237.1:c.469-1G>A | ENSP00000507343.1:n.469-1G>A | |
| ENST00000683856.1:c.292-1G>A | ENSP00000507979.1:n.292-1G>A | |
| ENST00000684006.1:c.469-1G>A | ENSP00000507269.1:n.469-1G>A | |
| ENST00000684657.1:c.289-1G>A | ENSP00000507961.1:n.289-1G>A | |
| ENST00000279146.8:c.469-1G>A MANE Select | ENSP00000279146.3:n.469-1G>A | |
| ENST00000279146.7:c.469-1G>A | ENSP00000279146.3:n.469-1G>A | |
| ENST00000525341.1:c.121-1G>A | ENSP00000476993.1:n.121-1G>A | |
| ENST00000528641.6:c.280-1G>A | ENSP00000434982.2:n.280-1G>A | |
| NM_001302959.1:c.292-1G>A | NP_001289888.1:n.292-1G>A | |
| NM_001302960.1:c.469-1G>A | NP_001289889.1:n.469-1G>A | |
| NM_003977.3:c.469-1G>A | NP_003968.3:n.469-1G>A | |
| XM_024448761.1:c.469-1G>A | XP_024304529.1:n.469-1G>A | |
| NM_003977.4:c.469-1G>A MANE Select | NP_003968.3:n.469-1G>A | |
| NM_001302960.2:c.469-1G>A | NP_001289889.1:n.469-1G>A | |
| NM_001302959.2:c.292-1G>A | NP_001289888.1:n.292-1G>A |