Linked Data
ClinVar Variation Id:
359664
ClinVar RCV Id:
RCV000392966
dbSNP Id:
rs369196786
ExAC:
7:21805118 T / C
gnomAD v2:
7-21805118-T-C
gnomAD v4:
7-21765500-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21765500T>C , CM000669.2:g.21765500T>C | GRCh38 |
| NC_000007.13:g.21805118T>C , CM000669.1:g.21805118T>C | GRCh37 |
| NC_000007.12:g.21771643T>C | NCBI36 |
| NG_012886.2:g.227286T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.9013T>C MANE Select | ENSP00000475939.1:p.Cys3005Arg | |
| ENST00000328843.10:c.9034T>C | ENSP00000330671.7:p.Cys3012Arg | |
| ENST00000409508.7:c.9013T>C | ENSP00000475939.1:p.Cys3005Arg | |
| ENST00000620169.4:c.9034T>C | ENSP00000481693.1:p.Cys3012Arg | |
| NM_001277115.1:c.9013T>C | NP_001264044.1:p.Cys3005Arg | |
| NM_001277115.2:c.9013T>C MANE Select | NP_001264044.1:p.Cys3005Arg |