Linked Data
ClinVar Variation Id:
541243
ClinVar RCV Id:
RCV000651468
dbSNP Id:
rs567303957
ExAC:
8:42977576 C / T
gnomAD v2:
8-42977576-C-T
gnomAD v3:
8-43122433-C-T
gnomAD v4:
8-43122433-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43122433C>T , CM000670.2:g.43122433C>T | GRCh38 |
| NC_000008.10:g.42977576C>T , CM000670.1:g.42977576C>T | GRCh37 |
| NC_000008.9:g.43096733C>T | NCBI36 |
| NG_033235.1:g.33928C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331373.10:c.609C>T MANE Select | ENSP00000331258.5:p.Cys203= | |
| ENST00000614426.2:c.*405C>T | ENSP00000478821.2:n.*405C>T | |
| ENST00000674646.1:c.327C>T | ENSP00000501703.1:p.Cys109= | |
| ENST00000674676.1:c.327C>T | ENSP00000502544.1:p.Cys109= | |
| ENST00000674782.1:c.*529C>T | ENSP00000501683.1:n.*529C>T | |
| ENST00000674937.1:c.567C>T | ENSP00000501823.1:p.Cys189= | |
| ENST00000675322.1:c.327C>T | ENSP00000502235.1:p.Cys109= | |
| ENST00000675675.1:c.327C>T | ENSP00000501793.1:p.Cys109= | |
| ENST00000676178.1:c.*394C>T | ENSP00000502007.1:n.*394C>T | |
| ENST00000676193.1:c.609C>T | ENSP00000502774.1:p.Cys203= | |
| ENST00000331373.9:c.609C>T | ENSP00000331258.5:p.Cys203= | |
| ENST00000614426.1:c.609C>T | ENSP00000478821.1:p.Cys203= | |
| NM_001277971.1:c.609C>T | NP_001264900.1:p.Cys203= | |
| NM_032237.4:c.609C>T | NP_115613.1:p.Cys203= | |
| XM_011544668.1:c.609C>T | XP_011542970.1:p.Cys203= | |
| XM_011544669.1:c.609C>T | XP_011542971.1:p.Cys203= | |
| NM_032237.5:c.609C>T MANE Select | NP_115613.1:p.Cys203= | |
| NM_001277971.2:c.609C>T | NP_001264900.1:p.Cys203= |