Linked Data
ClinVar Variation Id:
288128
dbSNP Id:
rs755107410
ExAC:
2:238249782 T / A
gnomAD v2:
2-238249782-T-A
gnomAD v4:
2-237341139-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237341139T>A , CM000664.2:g.237341139T>A | GRCh38 |
| NC_000002.11:g.238249782T>A , CM000664.1:g.238249782T>A | GRCh37 |
| NC_000002.10:g.237914521T>A | NCBI36 |
| NG_008676.1:g.78069A>T , LRG_473:g.78069A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.422A>T | ||
| ENST00000353578.9:c.7159A>T | ENSP00000315873.4:p.Ile2387Phe | |
| ENST00000684508.1:n.44A>T | ||
| ENST00000295550.9:c.7777A>T MANE Select | ENSP00000295550.4:p.Ile2593Phe | |
| ENST00000295550.8:c.7777A>T | ENSP00000295550.4:p.Ile2593Phe | |
| ENST00000347401.7:c.5953A>T | ENSP00000315609.4:p.Ile1985Phe | |
| ENST00000353578.8:c.7159A>T | ENSP00000315873.4:p.Ile2387Phe | |
| ENST00000409809.5:c.7159A>T | ENSP00000386844.1:p.Ile2387Phe | |
| ENST00000472056.5:c.5956A>T | ENSP00000418285.1:p.Ile1986Phe | |
| ENST00000491769.1:n.4219A>T | ||
| NM_004369.3:c.7777A>T , LRG_473t1:c.7777A>T | NP_004360.2:p.Ile2593Phe | |
| NM_057166.4:c.5956A>T | NP_476507.3:p.Ile1986Phe | |
| NM_057167.3:c.7159A>T | NP_476508.2:p.Ile2387Phe | |
| XM_005246065.1:c.7177A>T | XP_005246122.1:p.Ile2393Phe | |
| XM_005246066.1:c.6556A>T | XP_005246123.1:p.Ile2186Phe | |
| XM_006712253.1:c.7276A>T | XP_006712316.1:p.Ile2426Phe | |
| XM_011510574.1:c.7774A>T | XP_011508876.1:p.Ile2592Phe | |
| XM_011510575.1:c.5371A>T | XP_011508877.1:p.Ile1791Phe | |
| XM_017003304.1:c.5371A>T | XP_016858793.1:p.Ile1791Phe | |
| XM_024452684.1:c.6556A>T | XP_024308452.1:p.Ile2186Phe | |
| NM_004369.4:c.7777A>T MANE Select | NP_004360.2:p.Ile2593Phe | |
| NM_057166.5:c.5956A>T | NP_476507.3:p.Ile1986Phe | |
| NM_057167.4:c.7159A>T | NP_476508.2:p.Ile2387Phe |