Linked Data
dbSNP Id:
rs1447643837
gnomAD v2:
6-143092931-G-A
gnomAD v3:
6-142771794-G-A
gnomAD v4:
6-142771794-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.142771794G>A , CM000668.2:g.142771794G>A | GRCh38 |
| NC_000006.11:g.143092931G>A , CM000668.1:g.143092931G>A | GRCh37 |
| NC_000006.10:g.143134624G>A | NCBI36 |
| NG_047004.1:g.178408C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474532.2:c.2945C>T | ENSP00000515553.1:p.Ser982Phe | |
| ENST00000703916.1:c.1-3258C>T | ENSP00000515550.1:n.1-3258C>T | |
| ENST00000703917.1:c.1-3258C>T | ENSP00000515551.1:n.1-3258C>T | |
| ENST00000703918.1:c.2945C>T | ENSP00000515552.1:p.Ser982Phe | |
| ENST00000012134.7:c.2945C>T | ENSP00000012134.2:p.Ser982Phe | |
| ENST00000367603.8:c.2945C>T MANE Select | ENSP00000356575.2:p.Ser982Phe | |
| ENST00000367604.6:c.2945C>T | ENSP00000356576.1:p.Ser982Phe | |
| ENST00000012134.6:c.2945C>T | ENSP00000012134.2:p.Ser982Phe | |
| ENST00000367603.6:c.2945C>T | ENSP00000356575.2:p.Ser982Phe | |
| ENST00000367604.5:c.2945C>T | ENSP00000356576.1:p.Ser982Phe | |
| NM_006734.3:c.2945C>T | NP_006725.3:p.Ser982Phe | |
| XM_017010805.1:c.2945C>T | XP_016866294.1:p.Ser982Phe | |
| XM_024446416.1:c.2945C>T | XP_024302184.1:p.Ser982Phe | |
| XM_024446417.1:c.2945C>T | XP_024302185.1:p.Ser982Phe | |
| XM_024446418.1:c.2945C>T | XP_024302186.1:p.Ser982Phe | |
| XM_024446419.1:c.2945C>T | XP_024302187.1:p.Ser982Phe | |
| NM_006734.4:c.2945C>T MANE Select | NP_006725.3:p.Ser982Phe |