Linked Data
dbSNP Id:
rs1369724960
gnomAD v2:
17-64224228-A-G
gnomAD v3:
17-66228110-A-G
gnomAD v4:
17-66228110-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228110A>G , CM000679.2:g.66228110A>G | GRCh38 |
| NC_000017.10:g.64224228A>G , CM000679.1:g.64224228A>G | GRCh37 |
| NC_000017.9:g.61654690A>G | NCBI36 |
| NG_012045.1:g.6329T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.151T>C MANE Select | ENSP00000205948.6:p.Cys51Arg | |
| ENST00000205948.10:c.151T>C | ENSP00000205948.6:p.Cys51Arg | |
| ENST00000577982.1:c.151T>C | ENSP00000464301.1:p.Cys51Arg | |
| ENST00000581797.5:c.-30T>C | ENSP00000463553.1:n.-30T>C | |
| NM_000042.2:c.151T>C | NP_000033.2:p.Cys51Arg | |
| NM_000042.3:c.151T>C MANE Select | NP_000033.2:p.Cys51Arg |