Linked Data
ClinVar Variation Id:
352773
ClinVar RCV Id:
RCV000349031
dbSNP Id:
rs886060415
gnomAD v2:
5-171764027-C-T
gnomAD v3:
5-172337023-C-T
gnomAD v4:
5-172337023-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.172337023C>T , CM000667.2:g.172337023C>T | GRCh38 |
| NC_000005.9:g.171764027C>T , CM000667.1:g.171764027C>T | GRCh37 |
| NC_000005.8:g.171696632C>T | NCBI36 |
| NG_027746.1:g.122501G>A | |
| NG_027746.2:g.122501G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311601.6:c.*1346G>A MANE Select | ENSP00000309714.5:n.*1346G>A | |
| ENST00000636523.1:c.1228+9113G>A | ||
| ENST00000311601.5:c.*1346G>A | ENSP00000309714.5:n.*1346G>A | |
| ENST00000518522.5:c.201-3254G>A | ||
| ENST00000519643.5:c.1188+9113G>A | ENSP00000430890.1:n.1188+9113G>A | |
| NM_001017995.2:c.*1346G>A | NP_001017995.1:n.*1346G>A | |
| NM_001308175.1:c.1188+9113G>A | NP_001295104.1:n.1188+9113G>A | |
| XM_017009351.1:c.*1346G>A | XP_016864840.1:n.*1346G>A | |
| NM_001017995.3:c.*1346G>A MANE Select | NP_001017995.1:n.*1346G>A | |
| NM_001308175.2:c.1188+9113G>A | NP_001295104.1:n.1188+9113G>A |