Linked Data
ClinVar Variation Id:
2434486
ClinVar RCV Id:
RCV003133101
dbSNP Id:
rs1464959353
gnomAD v2:
5-68830573-A-T
gnomAD v4:
5-69534746-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.69534746A>T , CM000667.2:g.69534746A>T | GRCh38 |
| NC_000005.9:g.68830573A>T , CM000667.1:g.68830573A>T | GRCh37 |
| NC_000005.8:g.68866329A>T | NCBI36 |
| NG_028291.1:g.47455A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396442.7:c.944A>T MANE Select | ENSP00000379719.2:p.Tyr315Phe | |
| ENST00000680027.1:c.944A>T | ENSP00000506162.1:p.Tyr315Phe | |
| ENST00000680496.1:c.782A>T | ENSP00000504966.1:p.Tyr261Phe | |
| ENST00000680784.1:c.782A>T | ENSP00000506305.1:p.Tyr261Phe | |
| ENST00000681041.1:c.944A>T | ENSP00000505426.1:p.Tyr315Phe | |
| ENST00000681586.1:c.944A>T | ENSP00000505541.1:p.Tyr315Phe | |
| ENST00000681588.1:c.*120A>T | ENSP00000506017.1:n.*120A>T | |
| ENST00000681895.1:c.944A>T | ENSP00000505831.1:p.Tyr315Phe | |
| ENST00000355237.6:c.944A>T | ENSP00000347379.2:p.Tyr315Phe | |
| ENST00000396442.6:c.944A>T | ENSP00000379719.2:p.Tyr315Phe | |
| ENST00000538151.2:c.191A>T | ENSP00000445940.1:p.Tyr64Phe | |
| NM_001205254.1:c.944A>T | NP_001192183.1:p.Tyr315Phe | |
| NM_001205255.1:c.191A>T | NP_001192184.1:p.Tyr64Phe | |
| NM_002538.3:c.944A>T | NP_002529.1:p.Tyr315Phe | |
| XM_017008913.2:c.782A>T | XP_016864402.1:p.Tyr261Phe | |
| XM_017008914.2:c.782A>T | XP_016864403.1:p.Tyr261Phe | |
| NM_001205254.2:c.944A>T MANE Select | NP_001192183.1:p.Tyr315Phe | |
| NM_002538.4:c.944A>T | NP_002529.1:p.Tyr315Phe |