Linked Data
dbSNP Id:
rs1393390083
gnomAD v3:
1-149925790-T-C
gnomAD v4:
1-149925790-T-C
MyVariant Identifiers:
chr1:g.149925790T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149925790T>C , CM000663.2:g.149925790T>C | GRCh38 |
| NC_000001.10:g.149897682T>C , CM000663.1:g.149897682T>C | GRCh37 |
| NC_000001.9:g.148164306T>C | NCBI36 |
| NG_032777.1:g.7463A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.9:c.913+46A>G MANE Select | ENSP00000271628.8:n.913+46A>G | |
| ENST00000271628.8:c.913+46A>G | ENSP00000271628.8:n.913+46A>G | |
| NM_005850.4:c.913+46A>G | NP_005841.1:n.913+46A>G | |
| NM_005850.5:c.913+46A>G MANE Select | NP_005841.1:n.913+46A>G |