Linked Data
ClinVar Variation Id:
2512422
ClinVar RCV Id:
RCV004282599
dbSNP Id:
rs200749298
ExAC:
5:72419321 A / T
gnomAD v2:
5-72419321-A-T
gnomAD v3:
5-73123494-A-T
gnomAD v4:
5-73123494-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.73123494A>T , CM000667.2:g.73123494A>T | GRCh38 |
| NC_000005.9:g.72419321A>T , CM000667.1:g.72419321A>T | GRCh37 |
| NC_000005.8:g.72455077A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454765.7:c.121A>T MANE Select | ENSP00000415030.2:p.Ile41Phe | |
| ENST00000287773.5:c.121A>T | ENSP00000287773.5:p.Ile41Phe | |
| ENST00000454765.6:c.121A>T | ENSP00000415030.2:p.Ile41Phe | |
| NM_001161342.2:c.121A>T | NP_001154814.1:p.Ile41Phe | |
| NM_173490.7:c.121A>T | NP_775761.4:p.Ile41Phe | |
| XM_011543156.1:c.121A>T | XP_011541458.1:p.Ile41Phe | |
| XM_011543157.1:c.121A>T | XP_011541459.1:p.Ile41Phe | |
| NM_173490.8:c.121A>T MANE Select | NP_775761.4:p.Ile41Phe | |
| NM_001161342.3:c.121A>T | NP_001154814.1:p.Ile41Phe |