Linked Data
ClinVar Variation Id:
2911951
ClinVar RCV Id:
RCV003627441
dbSNP Id:
rs1459366647
gnomAD v2:
12-5155132-A-T
gnomAD v3:
12-5045966-A-T
gnomAD v4:
12-5045966-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045966A>T , CM000674.2:g.5045966A>T | GRCh38 |
| NC_000012.11:g.5155132A>T , CM000674.1:g.5155132A>T | GRCh37 |
| NC_000012.10:g.5025393A>T | NCBI36 |
| NG_012198.1:g.7048A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.1819A>T MANE Select | ENSP00000252321.3:p.Thr607Ser | |
| ENST00000252321.4:c.1819A>T | ENSP00000252321.3:p.Thr607Ser | |
| NM_002234.3:c.1819A>T | NP_002225.2:p.Thr607Ser | |
| NM_002234.4:c.1819A>T MANE Select | NP_002225.2:p.Thr607Ser |