Linked Data
ClinVar Variation Id:
420160
dbSNP Id:
rs531225271
ExAC:
13:113773072 C / T
gnomAD v2:
13-113773072-C-T
gnomAD v3:
13-113118758-C-T
gnomAD v4:
13-113118758-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118758C>T , CM000675.2:g.113118758C>T | GRCh38 |
| NC_000013.10:g.113773072C>T , CM000675.1:g.113773072C>T | GRCh37 |
| NC_000013.9:g.112821073C>T | NCBI36 |
| NG_009258.1:g.960C>T , LRG_548:g.960C>T | |
| NG_009262.1:g.17968C>T , LRG_554:g.17968C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.1085C>T MANE Select | ENSP00000329546.4:p.Thr362Met | |
| ENST00000346342.7:c.1085C>T | ENSP00000329546.3:p.Thr362Met | |
| ENST00000375581.3:c.1151C>T | ENSP00000364731.3:p.Thr384Met | |
| ENST00000541084.5:c.899C>T | ENSP00000442051.2:p.Thr300Met | |
| NM_000131.4:c.1151C>T , LRG_554t1:c.1151C>T | NP_000122.1:p.Thr384Met | |
| NM_001267554.1:c.899C>T | NP_001254483.1:p.Thr300Met | |
| NM_019616.3:c.1085C>T , LRG_554t2:c.1085C>T | NP_062562.1:p.Thr362Met | |
| NR_051961.1:n.1172C>T | ||
| XM_006719963.2:c.944C>T | XP_006720026.1:p.Thr315Met | |
| XM_011537474.1:c.1193C>T | XP_011535776.1:p.Thr398Met | |
| XM_011537475.1:c.1007C>T | XP_011535777.1:p.Thr336Met | |
| XM_011537476.1:c.845C>T | XP_011535778.1:p.Thr282Met | |
| XM_011537477.1:c.1154C>T | XP_011535779.1:p.Thr385Met | |
| XM_006719963.3:c.989C>T | XP_006720026.2:p.Thr330Met | |
| XM_011537474.2:c.1238C>T | XP_011535776.2:p.Thr413Met | |
| XM_011537475.2:c.1052C>T | XP_011535777.2:p.Thr351Met | |
| XM_011537476.2:c.845C>T | XP_011535778.1:p.Thr282Met | |
| NM_019616.4:c.1085C>T MANE Select | NP_062562.1:p.Thr362Met | |
| NR_051961.2:n.1169C>T | ||
| NM_001267554.2:c.899C>T | NP_001254483.1:p.Thr300Met |