Linked Data
ClinVar Variation Id:
67422
ClinVar RCV Id:
RCV000058147
RCV000148524
RCV000780364
RCV001841713
RCV002453373
RCV003884345
RCV002477188
dbSNP Id:
rs143512106
ExAC:
7:150645571 G / A
gnomAD v2:
7-150645571-G-A
gnomAD v3:
7-150948483-G-A
gnomAD v4:
7-150948483-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948483G>A , CM000669.2:g.150948483G>A | GRCh38 |
| NC_000007.13:g.150645571G>A , CM000669.1:g.150645571G>A | GRCh37 |
| NC_000007.12:g.150276504G>A | NCBI36 |
| NG_008916.1:g.34444C>T , LRG_288:g.34444C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3486C>T | ||
| ENST00000262186.10:c.2653C>T MANE Select | ENSP00000262186.5:p.Arg885Cys | |
| ENST00000330883.9:c.1633C>T | ENSP00000328531.4:p.Arg545Cys | |
| ENST00000262186.9:c.2653C>T | ENSP00000262186.5:p.Arg885Cys | |
| ENST00000330883.8:c.1633C>T | ENSP00000328531.4:p.Arg545Cys | |
| NM_000238.3:c.2653C>T , LRG_288t1:c.2653C>T | NP_000229.1:p.Arg885Cys | |
| NM_172057.2:c.1633C>T , LRG_288t3:c.1633C>T | NP_742054.1:p.Arg545Cys | |
| XM_011516185.1:c.2353C>T | XP_011514487.1:p.Arg785Cys | |
| XM_011516186.1:c.2653C>T | XP_011514488.1:p.Arg885Cys | |
| XM_011516185.2:c.2353C>T | XP_011514487.1:p.Arg785Cys | |
| XM_011516186.3:c.2653C>T | XP_011514488.1:p.Arg885Cys | |
| XM_017012195.1:c.2503C>T | XP_016867684.1:p.Arg835Cys | |
| XM_017012196.1:c.2476C>T | XP_016867685.1:p.Arg826Cys | |
| NM_000238.4:c.2653C>T MANE Select | NP_000229.1:p.Arg885Cys | |
| NM_172057.3:c.1633C>T | NP_742054.1:p.Arg545Cys |