Linked Data
ClinVar Variation Id:
67552
ClinVar RCV Id:
RCV000058281
RCV000157262
RCV000210884
RCV000620416
RCV001162645
RCV001841763
RCV004549488
dbSNP Id:
rs199473505
ExAC:
7:150654525 G / A
gnomAD v2:
7-150654525-G-A
gnomAD v3:
7-150957437-G-A
gnomAD v4:
7-150957437-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150957437G>A , CM000669.2:g.150957437G>A | GRCh38 |
| NC_000007.13:g.150654525G>A , CM000669.1:g.150654525G>A | GRCh37 |
| NC_000007.12:g.150285458G>A | NCBI36 |
| NG_008916.1:g.25490C>T , LRG_288:g.25490C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1815C>T | ||
| ENST00000262186.10:c.982C>T MANE Select | ENSP00000262186.5:p.Arg328Cys | |
| ENST00000262186.9:c.982C>T | ENSP00000262186.5:p.Arg328Cys | |
| ENST00000430723.4:c.634C>T | ENSP00000387657.4:p.Arg212Cys | |
| ENST00000532957.5:n.1205C>T | ||
| NM_000238.3:c.982C>T , LRG_288t1:c.982C>T | NP_000229.1:p.Arg328Cys | |
| NM_172056.2:c.982C>T , LRG_288t2:c.982C>T | NP_742053.1:p.Arg328Cys | |
| XM_011516185.1:c.682C>T | XP_011514487.1:p.Arg228Cys | |
| XM_011516186.1:c.982C>T | XP_011514488.1:p.Arg328Cys | |
| XM_011516185.2:c.682C>T | XP_011514487.1:p.Arg228Cys | |
| XM_011516186.3:c.982C>T | XP_011514488.1:p.Arg328Cys | |
| XM_017012195.1:c.832C>T | XP_016867684.1:p.Arg278Cys | |
| XM_017012196.1:c.805C>T | XP_016867685.1:p.Arg269Cys | |
| NM_000238.4:c.982C>T MANE Select | NP_000229.1:p.Arg328Cys |