Linked Data
dbSNP Id:
rs1428323014
gnomAD v2:
6-32810452-C-A
gnomAD v3:
6-32842675-C-A
gnomAD v4:
6-32842675-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32842675C>A , CM000668.2:g.32842675C>A | GRCh38 |
| NC_000006.11:g.32810452C>A , CM000668.1:g.32810452C>A | GRCh37 |
| NC_000006.10:g.32918430C>A | NCBI36 |
| NG_009793.3:g.1096G>T | |
| NG_028165.1:g.7261G>T | |
| NG_009793.4:g.1096G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.583G>T | ||
| ENST00000697612.1:n.1261G>T | ||
| ENST00000374881.3:c.392G>T | ENSP00000364015.2:p.Cys131Phe | |
| ENST00000374882.8:c.404G>T MANE Select | ENSP00000364016.4:p.Cys135Phe | |
| ENST00000650411.1:n.1725G>T | ||
| ENST00000650793.1:n.583G>T | ||
| ENST00000374881.2:c.392G>T | ENSP00000364015.2:p.Cys131Phe | |
| ENST00000374882.7:c.404G>T | ENSP00000364016.3:p.Cys135Phe | |
| ENST00000395339.7:c.332G>T | ENSP00000378748.3:p.Cys111Phe | |
| ENST00000484003.1:n.788G>T | ||
| NM_004159.4:c.392G>T | NP_004150.1:p.Cys131Phe | |
| NM_148919.3:c.404G>T | NP_683720.2:p.Cys135Phe | |
| NM_148919.4:c.404G>T MANE Select | NP_683720.2:p.Cys135Phe | |
| NM_004159.5:c.392G>T | NP_004150.1:p.Cys131Phe |