Linked Data
dbSNP Id:
rs757980530
ExAC:
13:113773305 C / T
gnomAD v2:
13-113773305-C-T
gnomAD v3:
13-113118991-C-T
gnomAD v4:
13-113118991-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118991C>T , CM000675.2:g.113118991C>T | GRCh38 |
| NC_000013.10:g.113773305C>T , CM000675.1:g.113773305C>T | GRCh37 |
| NC_000013.9:g.112821306C>T | NCBI36 |
| NG_009258.1:g.1193C>T , LRG_548:g.1193C>T | |
| NG_009262.1:g.18201C>T , LRG_554:g.18201C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.1318C>T MANE Select | ENSP00000329546.4:p.Arg440Ter | |
| ENST00000346342.7:c.1318C>T | ENSP00000329546.3:p.Arg440Ter | |
| ENST00000375581.3:c.1384C>T | ENSP00000364731.3:p.Arg462Ter | |
| ENST00000541084.5:c.1132C>T | ENSP00000442051.2:p.Arg378Ter | |
| NM_000131.4:c.1384C>T , LRG_554t1:c.1384C>T | NP_000122.1:p.Arg462Ter | |
| NM_001267554.1:c.1132C>T | NP_001254483.1:p.Arg378Ter | |
| NM_019616.3:c.1318C>T , LRG_554t2:c.1318C>T | NP_062562.1:p.Arg440Ter | |
| NR_051961.1:n.1405C>T | ||
| XM_006719963.2:c.1177C>T | XP_006720026.1:p.Arg393Ter | |
| XM_011537474.1:c.1426C>T | XP_011535776.1:p.Arg476Ter | |
| XM_011537475.1:c.1240C>T | XP_011535777.1:p.Arg414Ter | |
| XM_011537476.1:c.1078C>T | XP_011535778.1:p.Arg360Ter | |
| XM_011537477.1:c.1387C>T | XP_011535779.1:p.Arg463Ter | |
| XM_006719963.3:c.1222C>T | XP_006720026.2:p.Arg408Ter | |
| XM_011537474.2:c.1471C>T | XP_011535776.2:p.Arg491Ter | |
| XM_011537475.2:c.1285C>T | XP_011535777.2:p.Arg429Ter | |
| XM_011537476.2:c.1078C>T | XP_011535778.1:p.Arg360Ter | |
| NM_019616.4:c.1318C>T MANE Select | NP_062562.1:p.Arg440Ter | |
| NR_051961.2:n.1402C>T | ||
| NM_001267554.2:c.1132C>T | NP_001254483.1:p.Arg378Ter |