Linked Data
ClinVar Variation Id:
1042602
dbSNP Id:
rs1489260087
gnomAD v2:
5-131722745-A-T
gnomAD v3:
5-132387053-A-T
gnomAD v4:
5-132387053-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132387053A>T , CM000667.2:g.132387053A>T | GRCh38 |
| NC_000005.9:g.131722745A>T , CM000667.1:g.131722745A>T | GRCh37 |
| NC_000005.8:g.131750644A>T | NCBI36 |
| NG_008982.1:g.22345A>T | |
| NG_008982.2:g.22350A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.694A>T | ENSP00000388838.2:p.Ile232Phe | |
| ENST00000435065.7:c.925A>T | ENSP00000402760.2:p.Ile309Phe | |
| ENST00000448810.6:c.853A>T | ENSP00000401860.2:p.Ile285Phe | |
| ENST00000686757.1:c.*17A>T | ENSP00000510721.1:n.*17A>T | |
| ENST00000687740.1:n.3538A>T | ||
| ENST00000688151.1:n.2163A>T | ||
| ENST00000689271.1:c.700A>T | ENSP00000510797.1:p.Ile234Phe | |
| ENST00000690900.1:c.*17A>T | ENSP00000510703.1:n.*17A>T | |
| ENST00000692212.1:n.797A>T | ||
| ENST00000692355.1:c.205-1868A>T | ||
| ENST00000692413.1:c.844-9A>T | ENSP00000509374.1:n.844-9A>T | |
| ENST00000692825.1:c.921A>T | ENSP00000509447.1:n.921A>T | |
| ENST00000693308.1:c.901A>T | ENSP00000509770.1:p.Ile301Phe | |
| ENST00000693763.1:n.2013A>T | ||
| ENST00000245407.8:c.853A>T MANE Select | ENSP00000245407.3:p.Ile285Phe | |
| ENST00000245407.7:c.853A>T | ENSP00000245407.3:p.Ile285Phe | |
| ENST00000415928.5:c.622A>T | ENSP00000388838.1:p.Ile208Phe | |
| ENST00000435065.6:c.925A>T | ENSP00000402760.2:p.Ile309Phe | |
| ENST00000437841.6:c.*168A>T | ENSP00000400553.1:n.*168A>T | |
| ENST00000448810.5:c.201A>T | ||
| ENST00000461013.5:n.8275A>T | ||
| NM_001308122.1:c.925A>T | NP_001295051.1:p.Ile309Phe | |
| NM_003060.3:c.853A>T | NP_003051.1:p.Ile285Phe | |
| XM_011543590.1:c.235A>T | XP_011541892.1:p.Ile79Phe | |
| XR_427718.1:n.1213A>T | ||
| XR_948290.1:n.1194A>T | ||
| XR_948291.1:n.1207A>T | ||
| XM_011543590.2:c.235A>T | XP_011541892.1:p.Ile79Phe | |
| XM_017009778.2:c.325A>T | XP_016865267.1:p.Ile109Phe | |
| XR_001742215.1:n.1194A>T | ||
| XR_001742216.1:n.1213A>T | ||
| XR_427718.2:n.1213A>T | ||
| XR_948290.2:n.1194A>T | ||
| XR_948291.2:n.1207A>T | ||
| NM_003060.4:c.853A>T MANE Select | NP_003051.1:p.Ile285Phe | |
| NM_001308122.2:c.925A>T | NP_001295051.1:p.Ile309Phe |