Linked Data
ClinVar Variation Id:
240996
dbSNP Id:
rs192499639
ExAC:
2:73677983 G / T
gnomAD v2:
2-73677983-G-T
gnomAD v3:
2-73450856-G-T
gnomAD v4:
2-73450856-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73450856G>T , CM000664.2:g.73450856G>T | GRCh38 |
| NC_000002.11:g.73677983G>T , CM000664.1:g.73677983G>T | GRCh37 |
| NC_000002.10:g.73531491G>T | NCBI36 |
| NG_011690.1:g.70104G>T , LRG_741:g.70104G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.3948G>T | ENSP00000507671.1:p.Leu1316Phe | |
| ENST00000682801.1:c.3948G>T | ENSP00000507862.1:p.Leu1316Phe | |
| ENST00000682859.1:c.3948G>T | ENSP00000508222.1:p.Leu1316Phe | |
| ENST00000683791.1:c.685+18565G>T | ||
| ENST00000684460.1:c.1400G>T | ||
| ENST00000684548.1:c.3948G>T | ENSP00000507421.1:p.Leu1316Phe | |
| ENST00000684656.1:c.1400G>T | ||
| ENST00000613296.6:c.4329G>T MANE Select | ENSP00000482968.1:p.Leu1443Phe | |
| ENST00000484298.5:c.4203G>T | ENSP00000478155.1:p.Leu1401Phe | |
| ENST00000613296.4:c.4329G>T | ENSP00000482968.1:p.Leu1443Phe | |
| ENST00000614410.4:c.4329G>T | ENSP00000479094.1:p.Leu1443Phe | |
| NM_015120.4:c.4332G>T , LRG_741t1:c.4332G>T | NP_055935.4:p.Leu1444Phe | |
| NM_001378454.1:c.4329G>T MANE Select | NP_001365383.1:p.Leu1443Phe |