Linked Data
dbSNP Id:
rs781541689
ExAC:
9:132581160 A / G
gnomAD v2:
9-132581160-A-G
gnomAD v3:
9-129818881-A-G
gnomAD v4:
9-129818881-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818881A>G , CM000671.2:g.129818881A>G | GRCh38 |
| NC_000009.11:g.132581160A>G , CM000671.1:g.132581160A>G | GRCh37 |
| NC_000009.10:g.131620981A>G | NCBI36 |
| NG_008049.1:g.10282T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.484T>C MANE Select | ENSP00000345719.4:p.Cys162Arg | |
| ENST00000651202.1:c.580T>C | ENSP00000498222.1:p.Cys194Arg | |
| ENST00000351698.4:c.484T>C | ENSP00000345719.4:p.Cys162Arg | |
| ENST00000473604.2:n.594T>C | ||
| NM_000113.2:c.484T>C | NP_000104.1:p.Cys162Arg | |
| XR_929731.1:n.644T>C | ||
| XR_929731.3:n.512T>C | ||
| NM_000113.3:c.484T>C MANE Select | NP_000104.1:p.Cys162Arg |