Linked Data
ClinVar Variation Id:
1267337
ClinVar RCV Id:
RCV001677362
dbSNP Id:
rs2071069
gnomAD v2:
12-6979010-G-A
gnomAD v3:
12-6869846-G-A
gnomAD v4:
12-6869846-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6869846G>A , CM000674.2:g.6869846G>A | GRCh38 |
| NC_000012.11:g.6979010G>A , CM000674.1:g.6979010G>A | GRCh37 |
| NC_000012.10:g.6849271G>A | NCBI36 |
| NG_011948.1:g.7427G>A | |
| NG_013308.1:g.8512C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396705.10:c.543+73G>A MANE Select | ENSP00000379933.4:n.543+73G>A | |
| ENST00000229270.8:c.654+73G>A | ENSP00000229270.4:n.654+73G>A | |
| ENST00000396705.9:c.543+73G>A | ENSP00000379933.4:n.543+73G>A | |
| ENST00000482209.1:n.226+73G>A | ||
| ENST00000488464.6:c.297+73G>A | ENSP00000475620.1:n.297+73G>A | |
| ENST00000493987.5:c.297+73G>A | ENSP00000475364.1:n.297+73G>A | |
| ENST00000535434.5:c.297+73G>A | ENSP00000443599.1:n.297+73G>A | |
| ENST00000613953.4:c.654+73G>A | ENSP00000484435.1:n.654+73G>A | |
| NM_000365.5:c.543+73G>A | NP_000356.1:n.543+73G>A | |
| NM_001159287.1:c.654+73G>A | NP_001152759.1:n.654+73G>A | |
| NM_001258026.1:c.297+73G>A | NP_001244955.1:n.297+73G>A | |
| XR_002957378.1:n.1349G>A | ||
| NM_000365.6:c.543+73G>A MANE Select | NP_000356.1:n.543+73G>A | |
| NM_001258026.2:c.297+73G>A | NP_001244955.1:n.297+73G>A |