Linked Data
dbSNP Id:
rs777352123
ExAC:
19:18710390 A / G
gnomAD v2:
19-18710390-A-G
gnomAD v3:
19-18599580-A-G
gnomAD v4:
19-18599580-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18599580A>G , CM000681.2:g.18599580A>G | GRCh38 |
| NC_000019.9:g.18710390A>G , CM000681.1:g.18710390A>G | GRCh37 |
| NC_000019.8:g.18571390A>G | NCBI36 |
| NG_013370.1:g.12271T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684169.1:c.382T>C | ENSP00000506849.1:p.Cys128Arg | |
| ENST00000392386.8:c.382T>C MANE Select | ENSP00000376188.2:p.Cys128Arg | |
| ENST00000392386.7:c.382T>C | ENSP00000376188.2:p.Cys128Arg | |
| NM_004750.4:c.382T>C | NP_004741.1:p.Cys128Arg | |
| XM_011528422.1:c.316T>C | XP_011526724.1:p.Cys106Arg | |
| XM_011528423.1:c.382T>C | XP_011526725.1:p.Cys128Arg | |
| XM_011528424.1:c.316T>C | XP_011526726.1:p.Cys106Arg | |
| XM_011528422.2:c.316T>C | XP_011526724.1:p.Cys106Arg | |
| XM_011528423.2:c.382T>C | XP_011526725.1:p.Cys128Arg | |
| XM_011528424.3:c.316T>C | XP_011526726.1:p.Cys106Arg | |
| NM_004750.5:c.382T>C MANE Select | NP_004741.1:p.Cys128Arg |