Linked Data
ClinVar Variation Id:
2987355
ClinVar RCV Id:
RCV003848994
dbSNP Id:
rs1762929055
gnomAD v4:
5-179129919-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179129919T>G , CM000667.2:g.179129919T>G | GRCh38 |
| NC_000005.9:g.178556920T>G , CM000667.1:g.178556920T>G | GRCh37 |
| NC_000005.8:g.178489526T>G | NCBI36 |
| NG_023212.2:g.220410A>C | |
| NG_023212.3:g.220410A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698889.1:c.2457+13A>C | ENSP00000514008.1:n.2457+13A>C | |
| ENST00000251582.12:c.2457+13A>C MANE Select | ENSP00000251582.7:n.2457+13A>C | |
| ENST00000518335.3:c.2457+13A>C | ENSP00000489888.2:n.2457+13A>C | |
| ENST00000251582.11:c.2457+13A>C | ENSP00000251582.7:n.2457+13A>C | |
| NM_014244.4:c.2457+13A>C | NP_055059.2:n.2457+13A>C | |
| NM_014244.5:c.2457+13A>C MANE Select | NP_055059.2:n.2457+13A>C |