Linked Data
dbSNP Id:
rs758803379
ExAC:
6:32810735 T / A
gnomAD v2:
6-32810735-T-A
gnomAD v4:
6-32842958-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32842958T>A , CM000668.2:g.32842958T>A | GRCh38 |
| NC_000006.11:g.32810735T>A , CM000668.1:g.32810735T>A | GRCh37 |
| NC_000006.10:g.32918713T>A | NCBI36 |
| NG_009793.3:g.813A>T | |
| NG_028165.1:g.6978A>T | |
| NG_009793.4:g.813A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.300A>T | ||
| ENST00000697612.1:n.978A>T | ||
| ENST00000374881.3:c.267A>T | ENSP00000364015.2:p.Ser89= | |
| ENST00000374882.8:c.279A>T MANE Select | ENSP00000364016.4:p.Ser93= | |
| ENST00000650411.1:n.1600A>T | ||
| ENST00000650793.1:n.300A>T | ||
| ENST00000374881.2:c.267A>T | ENSP00000364015.2:p.Ser89= | |
| ENST00000374882.7:c.279A>T | ENSP00000364016.3:p.Ser93= | |
| ENST00000395339.7:c.279A>T | ENSP00000378748.3:p.Ser93= | |
| ENST00000484003.1:n.505A>T | ||
| NM_004159.4:c.267A>T | NP_004150.1:p.Ser89= | |
| NM_148919.3:c.279A>T | NP_683720.2:p.Ser93= | |
| NM_148919.4:c.279A>T MANE Select | NP_683720.2:p.Ser93= | |
| NM_004159.5:c.267A>T | NP_004150.1:p.Ser89= |