Linked Data
ClinVar Variation Id:
1991141
ClinVar RCV Id:
RCV002771532
dbSNP Id:
rs779625091
ExAC:
5:130982824 C / A
gnomAD v2:
5-130982824-C-A
gnomAD v3:
5-131647131-C-A
gnomAD v4:
5-131647131-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.131647131C>A , CM000667.2:g.131647131C>A | GRCh38 |
| NC_000005.9:g.130982824C>A , CM000667.1:g.130982824C>A | GRCh37 |
| NC_000005.8:g.131010723C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510461.6:c.3381G>T MANE Select | ENSP00000421985.1:p.Gly1127= | |
| ENST00000307954.12:c.3246G>T | ENSP00000310453.8:p.Gly1082= | |
| ENST00000307968.11:c.3297G>T | ENSP00000309266.7:p.Gly1099= | |
| ENST00000510461.5:c.3381G>T | ENSP00000421985.1:p.Gly1127= | |
| ENST00000514667.1:c.220-42438G>T | ENSP00000426948.1:n.220-42438G>T | |
| ENST00000615660.4:c.2637G>T | ENSP00000480650.1:p.Gly879= | |
| NM_001008738.2:c.3297G>T | NP_001008738.2:p.Gly1099= | |
| NM_133372.2:c.3381G>T | NP_588613.2:p.Gly1127= | |
| NM_001346114.1:c.3246G>T | NP_001333043.1:p.Gly1082= | |
| NM_133372.3:c.3381G>T MANE Select | NP_588613.3:p.Gly1127= | |
| NM_001008738.3:c.3297G>T | NP_001008738.3:p.Gly1099= | |
| NM_001346114.2:c.3246G>T | NP_001333043.1:p.Gly1082= |