Linked Data
dbSNP Id:
rs774867080
ExAC:
4:74279176 A / T
gnomAD v2:
4-74279176-A-T
gnomAD v4:
4-73413459-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73413459A>T , CM000666.2:g.73413459A>T | GRCh38 |
| NC_000004.11:g.74279176A>T , CM000666.1:g.74279176A>T | GRCh37 |
| NC_000004.10:g.74498040A>T | NCBI36 |
| NG_009291.1:g.14205A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.883A>T MANE Select | ENSP00000295897.4:p.Ile295Phe | |
| ENST00000295897.8:c.883A>T | ENSP00000295897.4:p.Ile295Phe | |
| ENST00000401494.7:c.538A>T | ENSP00000384695.3:p.Ile180Phe | |
| ENST00000415165.6:c.307A>T | ENSP00000401820.2:p.Ile103Phe | |
| ENST00000476441.6:c.*162A>T | ENSP00000423727.1:n.*162A>T | |
| ENST00000484992.1:n.203A>T | ||
| ENST00000503124.5:c.433A>T | ENSP00000421027.1:p.Ile145Phe | |
| ENST00000505649.5:n.569A>T | ||
| ENST00000509063.5:c.883A>T | ENSP00000422784.1:p.Ile295Phe | |
| ENST00000511370.1:c.416A>T | ||
| ENST00000621085.4:c.491-1647A>T | ENSP00000483421.1:n.491-1647A>T | |
| ENST00000621628.4:c.487-1643A>T | ENSP00000480485.1:n.487-1643A>T | |
| NM_000477.5:c.883A>T | NP_000468.1:p.Ile295Phe | |
| NM_000477.6:c.883A>T | NP_000468.1:p.Ile295Phe | |
| NM_000477.7:c.883A>T MANE Select | NP_000468.1:p.Ile295Phe |