Linked Data
dbSNP Id:
rs2653349
ExAC:
6:55142337 A / T
gnomAD v2:
6-55142337-A-T
gnomAD v4:
6-55277539-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.55277539A>T , CM000668.2:g.55277539A>T | GRCh38 |
| NC_000006.11:g.55142337A>T , CM000668.1:g.55142337A>T | GRCh37 |
| NC_000006.10:g.55250296A>T | NCBI36 |
| NG_012447.1:g.108267A>T | |
| NG_012447.2:g.176080A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370862.4:c.922A>T MANE Select | ENSP00000359899.3:p.Ile308Phe | |
| ENST00000370862.3:c.922A>T | ENSP00000359899.3:p.Ile308Phe | |
| ENST00000615358.4:c.922A>T | ENSP00000477548.1:p.Ile308Phe | |
| NM_001526.3:c.922A>T | NP_001517.2:p.Ile308Phe | |
| XM_011514542.1:c.727A>T | XP_011512844.1:p.Ile243Phe | |
| NM_001526.4:c.922A>T | NP_001517.2:p.Ile308Phe | |
| XM_017010798.1:c.922A>T | XP_016866287.1:p.Ile308Phe | |
| NM_001384272.1:c.922A>T MANE Select | NP_001371201.1:p.Ile308Phe | |
| NM_001526.5:c.922A>T | NP_001517.2:p.Ile308Phe |