Linked Data
ClinVar Variation Id:
986922
dbSNP Id:
rs372868296
ExAC:
5:1266640 G / A
gnomAD v2:
5-1266640-G-A
gnomAD v4:
5-1266525-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1266525G>A , CM000667.2:g.1266525G>A | GRCh38 |
| NC_000005.9:g.1266640G>A , CM000667.1:g.1266640G>A | GRCh37 |
| NC_000005.8:g.1319640G>A | NCBI36 |
| NG_009265.1:g.33523C>T , LRG_343:g.33523C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2593C>T MANE Select | ENSP00000309572.5:p.Arg865Cys | |
| ENST00000656021.1:c.*2139C>T | ENSP00000499759.1:n.*2139C>T | |
| ENST00000310581.9:c.2593C>T | ENSP00000309572.5:p.Arg865Cys | |
| ENST00000334602.10:c.2593C>T | ENSP00000334346.6:p.Arg865Cys | |
| ENST00000460137.6:c.2375C>T | ENSP00000425003.1:p.Ala792Val | |
| ENST00000484238.6:n.1224C>T | ||
| ENST00000508104.2:c.2411C>T | ENSP00000426042.2:p.Ala804Val | |
| NM_001193376.1:c.2593C>T | NP_001180305.1:p.Arg865Cys | |
| NM_198253.2:c.2593C>T , LRG_343t1:c.2593C>T | NP_937983.2:p.Arg865Cys | |
| XM_011514104.1:c.1063C>T | XP_011512406.1:p.Arg355Cys | |
| XM_011514105.1:c.949C>T | XP_011512407.1:p.Arg317Cys | |
| XM_011514106.1:c.949C>T | XP_011512408.1:p.Arg317Cys | |
| NR_149162.1:n.2469C>T | ||
| NR_149163.1:n.2433C>T | ||
| NM_001193376.2:c.2593C>T | NP_001180305.1:p.Arg865Cys | |
| NM_198253.3:c.2593C>T MANE Select | NP_937983.2:p.Arg865Cys | |
| NR_149162.2:n.2490C>T | ||
| NR_149163.2:n.2454C>T | ||
| NM_001193376.3:c.2593C>T | NP_001180305.1:p.Arg865Cys | |
| NR_149162.3:n.2490C>T | ||
| NR_149163.3:n.2454C>T |