Linked Data
dbSNP Id:
rs139256317
ExAC:
13:113773287 C / T
gnomAD v2:
13-113773287-C-T
gnomAD v3:
13-113118973-C-T
gnomAD v4:
13-113118973-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118973C>T , CM000675.2:g.113118973C>T | GRCh38 |
| NC_000013.10:g.113773287C>T , CM000675.1:g.113773287C>T | GRCh37 |
| NC_000013.9:g.112821288C>T | NCBI36 |
| NG_009258.1:g.1175C>T , LRG_548:g.1175C>T | |
| NG_009262.1:g.18183C>T , LRG_554:g.18183C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.1300C>T MANE Select | ENSP00000329546.4:p.Arg434Cys | |
| ENST00000346342.7:c.1300C>T | ENSP00000329546.3:p.Arg434Cys | |
| ENST00000375581.3:c.1366C>T | ENSP00000364731.3:p.Arg456Cys | |
| ENST00000541084.5:c.1114C>T | ENSP00000442051.2:p.Arg372Cys | |
| NM_000131.4:c.1366C>T , LRG_554t1:c.1366C>T | NP_000122.1:p.Arg456Cys | |
| NM_001267554.1:c.1114C>T | NP_001254483.1:p.Arg372Cys | |
| NM_019616.3:c.1300C>T , LRG_554t2:c.1300C>T | NP_062562.1:p.Arg434Cys | |
| NR_051961.1:n.1387C>T | ||
| XM_006719963.2:c.1159C>T | XP_006720026.1:p.Arg387Cys | |
| XM_011537474.1:c.1408C>T | XP_011535776.1:p.Arg470Cys | |
| XM_011537475.1:c.1222C>T | XP_011535777.1:p.Arg408Cys | |
| XM_011537476.1:c.1060C>T | XP_011535778.1:p.Arg354Cys | |
| XM_011537477.1:c.1369C>T | XP_011535779.1:p.Arg457Cys | |
| XM_006719963.3:c.1204C>T | XP_006720026.2:p.Arg402Cys | |
| XM_011537474.2:c.1453C>T | XP_011535776.2:p.Arg485Cys | |
| XM_011537475.2:c.1267C>T | XP_011535777.2:p.Arg423Cys | |
| XM_011537476.2:c.1060C>T | XP_011535778.1:p.Arg354Cys | |
| NM_019616.4:c.1300C>T MANE Select | NP_062562.1:p.Arg434Cys | |
| NR_051961.2:n.1384C>T | ||
| NM_001267554.2:c.1114C>T | NP_001254483.1:p.Arg372Cys |