Linked Data
dbSNP Id:
rs774524003
ExAC:
1:43395640 T / A
gnomAD v2:
1-43395640-T-A
gnomAD v4:
1-42929969-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929969T>A , CM000663.2:g.42929969T>A | GRCh38 |
| NC_000001.10:g.43395640T>A , CM000663.1:g.43395640T>A | GRCh37 |
| NC_000001.9:g.43168227T>A | NCBI36 |
| NG_008232.1:g.34208A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.583A>T MANE Select | ENSP00000416293.2:p.Ile195Phe | |
| ENST00000674765.1:c.583A>T | ENSP00000501811.1:p.Ile195Phe | |
| ENST00000675112.1:n.606A>T | ||
| ENST00000676254.1:n.1032A>T | ||
| ENST00000426263.7:c.583A>T | ENSP00000416293.2:p.Ile195Phe | |
| ENST00000439722.2:c.462A>T | ENSP00000395521.2:n.462A>T | |
| ENST00000475162.3:c.415+657A>T | ||
| ENST00000630287.2:c.517-189A>T | ENSP00000486694.1:n.517-189A>T | |
| NM_006516.2:c.583A>T | NP_006507.2:p.Ile195Phe | |
| NM_006516.3:c.583A>T | NP_006507.2:p.Ile195Phe | |
| NM_006516.4:c.583A>T MANE Select | NP_006507.2:p.Ile195Phe |