Linked Data
ClinVar Variation Id:
426366
dbSNP Id:
rs761651320
ExAC:
7:65552355 C / T
gnomAD v2:
7-65552355-C-T
gnomAD v4:
7-66087368-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66087368C>T , CM000669.2:g.66087368C>T | GRCh38 |
| NC_000007.13:g.65552355C>T , CM000669.1:g.65552355C>T | GRCh37 |
| NC_000007.12:g.65189790C>T | NCBI36 |
| NG_009288.1:g.16580C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304874.14:c.637C>T MANE Select | ENSP00000307188.9:p.Arg213Ter | |
| ENST00000362000.10:c.442C>T | ENSP00000354710.6:p.Arg148Ter | |
| ENST00000380839.9:c.559C>T | ENSP00000370219.4:p.Arg187Ter | |
| ENST00000395331.4:c.637C>T | ENSP00000378740.3:p.Arg213Ter | |
| ENST00000395332.8:c.637C>T | ENSP00000378741.3:p.Arg213Ter | |
| ENST00000671817.1:c.559C>T | ENSP00000500462.1:p.Arg187Ter | |
| ENST00000672498.1:c.447-361C>T | ENSP00000500227.1:n.447-361C>T | |
| ENST00000672586.1:n.1054C>T | ||
| ENST00000672676.1:n.1319C>T | ||
| ENST00000673149.1:n.449C>T | ||
| ENST00000673350.1:n.1397C>T | ||
| ENST00000673518.1:c.559C>T | ENSP00000499889.1:p.Arg187Ter | |
| ENST00000673594.1:n.486C>T | ||
| ENST00000304874.13:c.637C>T | ENSP00000307188.9:p.Arg213Ter | |
| ENST00000362000.9:c.442C>T | ENSP00000354710.5:p.Arg148Ter | |
| ENST00000380839.8:c.559C>T | ENSP00000370219.4:p.Arg187Ter | |
| ENST00000395331.3:c.637C>T | ENSP00000378740.3:p.Arg213Ter | |
| ENST00000395332.7:c.637C>T | ENSP00000378741.3:p.Arg213Ter | |
| NM_000048.3:c.637C>T | NP_000039.2:p.Arg213Ter | |
| NM_001024943.1:c.637C>T | NP_001020114.1:p.Arg213Ter | |
| NM_001024944.1:c.637C>T | NP_001020115.1:p.Arg213Ter | |
| NM_001024946.1:c.559C>T | NP_001020117.1:p.Arg187Ter | |
| NM_000048.4:c.637C>T MANE Select | NP_000039.2:p.Arg213Ter | |
| NM_001024943.2:c.637C>T | NP_001020114.1:p.Arg213Ter | |
| NM_001024944.2:c.637C>T | NP_001020115.1:p.Arg213Ter | |
| NM_001024946.2:c.559C>T | NP_001020117.1:p.Arg187Ter |