Linked Data
ClinVar Variation Id:
1366228
ClinVar RCV Id:
RCV001962008
dbSNP Id:
rs760215987
gnomAD v4:
6-7585663-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7585663C>T , CM000668.2:g.7585663C>T | GRCh38 |
| NC_000006.11:g.7585896C>T , CM000668.1:g.7585896C>T | GRCh37 |
| NC_000006.10:g.7530895C>T | NCBI36 |
| NG_008803.1:g.49027C>T , LRG_423:g.49027C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.7072C>T | ENSP00000518230.1:p.Arg2358Cys | |
| ENST00000379802.8:c.8401C>T MANE Select | ENSP00000369129.3:p.Arg2801Cys | |
| ENST00000379802.7:c.8401C>T | ENSP00000369129.3:p.Arg2801Cys | |
| ENST00000418664.2:c.6604C>T | ENSP00000396591.2:p.Arg2202Cys | |
| NM_001008844.1:c.6604C>T | NP_001008844.1:p.Arg2202Cys | |
| NM_004415.2:c.8401C>T , LRG_423t1:c.8401C>T | NP_004406.2:p.Arg2801Cys | |
| XM_011514323.1:c.7072C>T | XP_011512625.1:p.Arg2358Cys | |
| NM_001008844.2:c.6604C>T | NP_001008844.1:p.Arg2202Cys | |
| NM_001319034.1:c.7072C>T | NP_001305963.1:p.Arg2358Cys | |
| NM_004415.3:c.8401C>T | NP_004406.2:p.Arg2801Cys | |
| NM_004415.4:c.8401C>T MANE Select | NP_004406.2:p.Arg2801Cys | |
| NM_001008844.3:c.6604C>T | NP_001008844.1:p.Arg2202Cys | |
| NM_001319034.2:c.7072C>T | NP_001305963.1:p.Arg2358Cys |