Linked Data
dbSNP Id:
rs1355621061
gnomAD v2:
1-94496283-T-C
gnomAD v3:
1-94030727-T-C
gnomAD v4:
1-94030727-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94030727T>C , CM000663.2:g.94030727T>C | GRCh38 |
| NC_000001.10:g.94496283T>C , CM000663.1:g.94496283T>C | GRCh37 |
| NC_000001.9:g.94268871T>C | NCBI36 |
| NG_009073.1:g.95423A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4254-201A>G MANE Select | ENSP00000359245.3:n.4254-201A>G | |
| ENST00000370225.3:c.4254-201A>G | ENSP00000359245.3:n.4254-201A>G | |
| ENST00000536513.5:c.630-201A>G | ENSP00000439707.2:n.630-201A>G | |
| NM_000350.2:c.4254-201A>G | NP_000341.2:n.4254-201A>G | |
| NM_000350.3:c.4254-201A>G MANE Select | NP_000341.2:n.4254-201A>G |