Linked Data
dbSNP Id:
rs751290450
ExAC:
13:113773314 T / A
gnomAD v2:
13-113773314-T-A
gnomAD v4:
13-113119000-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113119000T>A , CM000675.2:g.113119000T>A | GRCh38 |
| NC_000013.10:g.113773314T>A , CM000675.1:g.113773314T>A | GRCh37 |
| NC_000013.9:g.112821315T>A | NCBI36 |
| NG_009258.1:g.1202T>A , LRG_548:g.1202T>A | |
| NG_009262.1:g.18210T>A , LRG_554:g.18210T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.1327T>A MANE Select | ENSP00000329546.4:p.Phe443Ile | |
| ENST00000346342.7:c.1327T>A | ENSP00000329546.3:p.Phe443Ile | |
| ENST00000375581.3:c.1393T>A | ENSP00000364731.3:p.Phe465Ile | |
| ENST00000541084.5:c.1141T>A | ENSP00000442051.2:p.Phe381Ile | |
| NM_000131.4:c.1393T>A , LRG_554t1:c.1393T>A | NP_000122.1:p.Phe465Ile | |
| NM_001267554.1:c.1141T>A | NP_001254483.1:p.Phe381Ile | |
| NM_019616.3:c.1327T>A , LRG_554t2:c.1327T>A | NP_062562.1:p.Phe443Ile | |
| NR_051961.1:n.1414T>A | ||
| XM_006719963.2:c.1186T>A | XP_006720026.1:p.Phe396Ile | |
| XM_011537474.1:c.1435T>A | XP_011535776.1:p.Phe479Ile | |
| XM_011537475.1:c.1249T>A | XP_011535777.1:p.Phe417Ile | |
| XM_011537476.1:c.1087T>A | XP_011535778.1:p.Phe363Ile | |
| XM_011537477.1:c.1396T>A | XP_011535779.1:p.Phe466Ile | |
| XM_006719963.3:c.1231T>A | XP_006720026.2:p.Phe411Ile | |
| XM_011537474.2:c.1480T>A | XP_011535776.2:p.Phe494Ile | |
| XM_011537475.2:c.1294T>A | XP_011535777.2:p.Phe432Ile | |
| XM_011537476.2:c.1087T>A | XP_011535778.1:p.Phe363Ile | |
| NM_019616.4:c.1327T>A MANE Select | NP_062562.1:p.Phe443Ile | |
| NR_051961.2:n.1411T>A | ||
| NM_001267554.2:c.1141T>A | NP_001254483.1:p.Phe381Ile |