Linked Data
dbSNP Id:
rs1281945362
gnomAD v3:
1-149884651-C-G
gnomAD v4:
1-149884651-C-G
MyVariant Identifiers:
chr1:g.149884651C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149884651C>G , CM000663.2:g.149884651C>G | GRCh38 |
| NC_000001.10:g.149856201C>G , CM000663.1:g.149856201C>G | GRCh37 |
| NC_000001.9:g.148122825C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369155.4:c.*1609G>C MANE Select | ENSP00000358151.2:n.*1609G>C | |
| ENST00000369155.3:c.*1609G>C | ENSP00000358151.2:n.*1609G>C | |
| ENST00000369160.3:c.377+1613G>C | ENSP00000375736.2:n.377+1613G>C | |
| NM_003528.2:c.*1609G>C | NP_003519.1:n.*1609G>C | |
| NM_003528.3:c.*1609G>C MANE Select | NP_003519.1:n.*1609G>C |