Linked Data
dbSNP Id:
rs1801689
ExAC:
17:64210580 A / G
gnomAD v2:
17-64210580-A-G
gnomAD v3:
17-66214462-A-G
gnomAD v4:
17-66214462-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66214462A>G , CM000679.2:g.66214462A>G | GRCh38 |
| NC_000017.10:g.64210580A>G , CM000679.1:g.64210580A>G | GRCh37 |
| NC_000017.9:g.61641042A>G | NCBI36 |
| NG_012045.1:g.19977T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000205948.11:c.973T>C MANE Select | ENSP00000205948.6:p.Cys325Arg | |
| ENST00000205948.10:c.973T>C | ENSP00000205948.6:p.Cys325Arg | |
| ENST00000585162.1:c.258-2274T>C | ||
| NM_000042.2:c.973T>C | NP_000033.2:p.Cys325Arg | |
| NM_000042.3:c.973T>C MANE Select | NP_000033.2:p.Cys325Arg |