Linked Data
dbSNP Id:
rs767757469
ExAC:
20:60503343 T / C
gnomAD v2:
20-60503343-T-C
gnomAD v4:
20-61928285-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61928285T>C , CM000682.2:g.61928285T>C | GRCh38 |
| NC_000020.10:g.60503343T>C , CM000682.1:g.60503343T>C | GRCh37 |
| NC_000020.9:g.59936738T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614565.5:c.1867T>C MANE Select | ENSP00000484928.1:p.Cys623Arg | |
| ENST00000543233.2:c.1645T>C | ENSP00000443301.1:p.Cys549Arg | |
| ENST00000611855.4:c.1585T>C | ENSP00000480844.1:p.Cys529Arg | |
| ENST00000614565.4:c.1867T>C | ENSP00000484928.1:p.Cys623Arg | |
| NM_001252338.2:c.1756T>C | NP_001239267.1:p.Cys586Arg | |
| NM_001252339.2:c.1645T>C | NP_001239268.1:p.Cys549Arg | |
| NM_001794.4:c.1867T>C | NP_001785.2:p.Cys623Arg | |
| NM_001794.5:c.1867T>C MANE Select | NP_001785.2:p.Cys623Arg | |
| NM_001252339.3:c.1645T>C | NP_001239268.1:p.Cys549Arg |