Linked Data
ClinVar Variation Id:
166743
dbSNP Id:
rs727503822
gnomAD v2:
6-81053486-T-C
gnomAD v3:
6-80343769-T-C
gnomAD v4:
6-80343769-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80343769T>C , CM000668.2:g.80343769T>C | GRCh38 |
| NC_000006.11:g.81053486T>C , CM000668.1:g.81053486T>C | GRCh37 |
| NC_000006.10:g.81110205T>C | NCBI36 |
| NG_009775.1:g.242143T>C | |
| NG_009775.2:g.242143T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320393.9:c.1144T>C MANE Select | ENSP00000318351.5:p.Cys382Arg | |
| ENST00000320393.8:c.1144T>C | ENSP00000318351.5:p.Cys382Arg | |
| ENST00000356489.9:c.1144T>C | ENSP00000348880.5:p.Cys382Arg | |
| ENST00000491328.1:n.199T>C | ||
| NM_000056.3:c.1144T>C | NP_000047.1:p.Cys382Arg | |
| NM_183050.2:c.1144T>C | NP_898871.1:p.Cys382Arg | |
| XM_006715542.2:c.934T>C | XP_006715605.1:p.Cys312Arg | |
| XM_011536024.1:c.*150T>C | XP_011534326.1:n.*150T>C | |
| XM_011536026.1:c.934T>C | XP_011534328.1:p.Cys312Arg | |
| NM_000056.4:c.1144T>C | NP_000047.1:p.Cys382Arg | |
| NM_001318975.1:c.934T>C | NP_001305904.1:p.Cys312Arg | |
| NM_183050.3:c.1144T>C | NP_898871.1:p.Cys382Arg | |
| NR_134945.1:n.1322T>C | ||
| XM_011536024.3:c.*150T>C | XP_011534326.1:n.*150T>C | |
| XR_001743546.2:n.1068+70548T>C | ||
| XR_001743547.2:n.1068+70548T>C | ||
| XR_001743548.2:n.1068+70548T>C | ||
| XR_001743549.2:n.1068+70548T>C | ||
| XR_002956292.1:n.1068+70548T>C | ||
| NM_183050.4:c.1144T>C MANE Select | NP_898871.1:p.Cys382Arg | |
| NR_134945.2:n.1261T>C | ||
| NM_000056.5:c.1144T>C | NP_000047.1:p.Cys382Arg |