Linked Data
ClinVar Variation Id:
2417121
ClinVar RCV Id:
RCV003111949
dbSNP Id:
rs759821949
ExAC:
1:173878968 T / A
gnomAD v2:
1-173878968-T-A
gnomAD v3:
1-173909830-T-A
gnomAD v4:
1-173909830-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909830T>A , CM000663.2:g.173909830T>A | GRCh38 |
| NC_000001.10:g.173878968T>A , CM000663.1:g.173878968T>A | GRCh37 |
| NC_000001.9:g.172145591T>A | NCBI36 |
| NG_012462.1:g.12549A>T , LRG_577:g.12549A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.875A>T MANE Select | ENSP00000356671.3:p.Tyr292Phe | |
| ENST00000367698.3:c.875A>T | ENSP00000356671.3:p.Tyr292Phe | |
| ENST00000487183.1:n.526A>T | ||
| ENST00000617423.4:c.559+2034A>T | ENSP00000478688.1:n.559+2034A>T | |
| NM_000488.3:c.875A>T , LRG_577t1:c.875A>T | NP_000479.1:p.Tyr292Phe | |
| XM_005245198.2:c.731A>T | XP_005245255.1:p.Tyr244Phe | |
| NM_001365052.1:c.731A>T | NP_001351981.1:p.Tyr244Phe | |
| NM_000488.4:c.875A>T MANE Select | NP_000479.1:p.Tyr292Phe | |
| NM_001365052.2:c.731A>T | NP_001351981.1:p.Tyr244Phe | |
| NM_001386302.1:c.998A>T | NP_001373231.1:p.Tyr333Phe | |
| NM_001386303.1:c.956A>T | NP_001373232.1:p.Tyr319Phe | |
| NM_001386304.1:c.854A>T | NP_001373233.1:p.Tyr285Phe | |
| NM_001386305.1:c.818A>T | NP_001373234.1:p.Tyr273Phe | |
| NM_001386306.1:c.659A>T | NP_001373235.1:p.Tyr220Phe |