Linked Data
ClinVar Variation Id:
417978
ClinVar RCV Id:
RCV000479570
dbSNP Id:
rs1064793004
gnomAD v4:
1-94112968-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94112968C>G , CM000663.2:g.94112968C>G | GRCh38 |
| NC_000001.10:g.94578524C>G , CM000663.1:g.94578524C>G | GRCh37 |
| NC_000001.9:g.94351112C>G | NCBI36 |
| NG_009073.1:g.13182G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.160+5G>C MANE Select | ENSP00000359245.3:n.160+5G>C | |
| ENST00000649773.1:c.160+5G>C | ENSP00000496882.1:n.160+5G>C | |
| ENST00000370225.3:c.160+5G>C | ENSP00000359245.3:n.160+5G>C | |
| NM_000350.2:c.160+5G>C | NP_000341.2:n.160+5G>C | |
| NM_000350.3:c.160+5G>C MANE Select | NP_000341.2:n.160+5G>C |