Linked Data
dbSNP Id:
rs747876824
ExAC:
13:113772969 C / T
gnomAD v2:
13-113772969-C-T
gnomAD v3:
13-113118655-C-T
gnomAD v4:
13-113118655-C-T
COSMIC:
COSM4888078
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118655C>T , CM000675.2:g.113118655C>T | GRCh38 |
| NC_000013.10:g.113772969C>T , CM000675.1:g.113772969C>T | GRCh37 |
| NC_000013.9:g.112820970C>T | NCBI36 |
| NG_009258.1:g.857C>T , LRG_548:g.857C>T | |
| NG_009262.1:g.17865C>T , LRG_554:g.17865C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.982C>T MANE Select | ENSP00000329546.4:p.Arg328Cys | |
| ENST00000346342.7:c.982C>T | ENSP00000329546.3:p.Arg328Cys | |
| ENST00000375581.3:c.1048C>T | ENSP00000364731.3:p.Arg350Cys | |
| ENST00000541084.5:c.796C>T | ENSP00000442051.2:p.Arg266Cys | |
| NM_000131.4:c.1048C>T , LRG_554t1:c.1048C>T | NP_000122.1:p.Arg350Cys | |
| NM_001267554.1:c.796C>T | NP_001254483.1:p.Arg266Cys | |
| NM_019616.3:c.982C>T , LRG_554t2:c.982C>T | NP_062562.1:p.Arg328Cys | |
| NR_051961.1:n.1069C>T | ||
| XM_006719963.2:c.841C>T | XP_006720026.1:p.Arg281Cys | |
| XM_011537474.1:c.1090C>T | XP_011535776.1:p.Arg364Cys | |
| XM_011537475.1:c.904C>T | XP_011535777.1:p.Arg302Cys | |
| XM_011537476.1:c.742C>T | XP_011535778.1:p.Arg248Cys | |
| XM_011537477.1:c.1051C>T | XP_011535779.1:p.Arg351Cys | |
| XM_006719963.3:c.886C>T | XP_006720026.2:p.Arg296Cys | |
| XM_011537474.2:c.1135C>T | XP_011535776.2:p.Arg379Cys | |
| XM_011537475.2:c.949C>T | XP_011535777.2:p.Arg317Cys | |
| XM_011537476.2:c.742C>T | XP_011535778.1:p.Arg248Cys | |
| NM_019616.4:c.982C>T MANE Select | NP_062562.1:p.Arg328Cys | |
| NR_051961.2:n.1066C>T | ||
| NM_001267554.2:c.796C>T | NP_001254483.1:p.Arg266Cys |