Linked Data
ClinVar Variation Id:
632459
dbSNP Id:
rs748215576
ExAC:
5:158747351 A / T
gnomAD v2:
5-158747351-A-T
gnomAD v3:
5-159320343-A-T
gnomAD v4:
5-159320343-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320343A>T , CM000667.2:g.159320343A>T | GRCh38 |
| NC_000005.9:g.158747351A>T , CM000667.1:g.158747351A>T | GRCh37 |
| NC_000005.8:g.158679929A>T | NCBI36 |
| NG_009618.1:g.15131T>A , LRG_71:g.15131T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.30T>A | ENSP00000512849.1:p.Tyr10Ter | |
| ENST00000696751.1:c.*155T>A | ENSP00000512850.1:n.*155T>A | |
| ENST00000231228.3:c.660T>A MANE Select | ENSP00000231228.2:p.Tyr220Ter | |
| ENST00000231228.2:c.660T>A | ENSP00000231228.2:p.Tyr220Ter | |
| NM_002187.2:c.660T>A , LRG_71t1:c.660T>A | NP_002178.2:p.Tyr220Ter | |
| NM_002187.3:c.660T>A MANE Select | NP_002178.2:p.Tyr220Ter |