Linked Data
ClinVar Variation Id:
349289
dbSNP Id:
rs149359860
ExAC:
4:619585 C / T
gnomAD v2:
4-619585-C-T
gnomAD v3:
4-625796-C-T
gnomAD v4:
4-625796-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.625796C>T , CM000666.2:g.625796C>T | GRCh38 |
| NC_000004.11:g.619585C>T , CM000666.1:g.619585C>T | GRCh37 |
| NC_000004.10:g.609585C>T | NCBI36 |
| NG_009839.1:g.5223C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496514.6:c.170C>T MANE Select | ENSP00000420295.1:p.Thr57Met | |
| ENST00000255622.10:c.170C>T | ENSP00000255622.6:p.Thr57Met | |
| ENST00000496514.5:c.170C>T | ENSP00000420295.1:p.Thr57Met | |
| NM_000283.3:c.170C>T | NP_000274.2:p.Thr57Met | |
| NM_001145291.1:c.170C>T | NP_001138763.1:p.Thr57Met | |
| XM_011513473.1:c.389C>T | XP_011511775.1:p.Thr130Met | |
| XM_011513474.1:c.389C>T | XP_011511776.1:p.Thr130Met | |
| XM_011513475.1:c.170C>T | XP_011511777.1:p.Thr57Met | |
| XM_011513476.1:c.389C>T | XP_011511778.1:p.Thr130Met | |
| XM_011513473.3:c.389C>T | XP_011511775.1:p.Thr130Met | |
| XM_011513474.3:c.389C>T | XP_011511776.1:p.Thr130Met | |
| XM_011513475.2:c.170C>T | XP_011511777.1:p.Thr57Met | |
| XM_011513476.3:c.389C>T | XP_011511778.1:p.Thr130Met | |
| NM_000283.4:c.170C>T MANE Select | NP_000274.3:p.Thr57Met | |
| NM_001145291.2:c.170C>T | NP_001138763.2:p.Thr57Met |