Linked Data
ClinVar Variation Id:
318013
ClinVar RCV Id:
RCV000388331
dbSNP Id:
rs886051709
gnomAD v2:
16-1573587-A-G
gnomAD v4:
16-1523586-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1523586A>G , CM000678.2:g.1523586A>G | GRCh38 |
| NC_000016.9:g.1573587A>G , CM000678.1:g.1573587A>G | GRCh37 |
| NC_000016.8:g.1513588A>G | NCBI36 |
| NG_032783.1:g.93523T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426508.7:c.3385T>C MANE Select | ENSP00000406012.2:p.Cys1129Arg | |
| ENST00000361339.9:c.967T>C | ENSP00000354895.5:p.Cys323Arg | |
| ENST00000397417.6:c.*1823T>C | ENSP00000380562.2:n.*1823T>C | |
| ENST00000426508.6:c.3385T>C | ENSP00000406012.2:p.Cys1129Arg | |
| ENST00000565298.5:n.3209T>C | ||
| NM_014714.3:c.3385T>C | NP_055529.2:p.Cys1129Arg | |
| XM_006720989.2:c.3385T>C | XP_006721052.1:p.Cys1129Arg | |
| XM_006720990.2:c.3385T>C | XP_006721053.1:p.Cys1129Arg | |
| XM_006720991.2:c.3385T>C | XP_006721054.1:p.Cys1129Arg | |
| XM_006720992.2:c.1018T>C | XP_006721055.1:p.Cys340Arg | |
| XM_011522766.1:c.3139T>C | XP_011521068.1:p.Cys1047Arg | |
| XM_011522767.1:c.2410T>C | XP_011521069.1:p.Cys804Arg | |
| XM_006720990.3:c.3385T>C | XP_006721053.1:p.Cys1129Arg | |
| XM_006720991.3:c.3385T>C | XP_006721054.1:p.Cys1129Arg | |
| XM_006720992.3:c.1018T>C | XP_006721055.1:p.Cys340Arg | |
| XM_011522766.3:c.3139T>C | XP_011521068.1:p.Cys1047Arg | |
| XM_011522767.2:c.2410T>C | XP_011521069.1:p.Cys804Arg | |
| XM_017023910.1:c.3385T>C | XP_016879399.1:p.Cys1129Arg | |
| XM_017023911.1:c.1570T>C | XP_016879400.1:p.Cys524Arg | |
| NM_014714.4:c.3385T>C MANE Select | NP_055529.2:p.Cys1129Arg |