Linked Data
dbSNP Id:
rs925520066
gnomAD v2:
6-32810789-C-A
gnomAD v3:
6-32843012-C-A
gnomAD v4:
6-32843012-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32843012C>A , CM000668.2:g.32843012C>A | GRCh38 |
| NC_000006.11:g.32810789C>A , CM000668.1:g.32810789C>A | GRCh37 |
| NC_000006.10:g.32918767C>A | NCBI36 |
| NG_009793.3:g.759G>T | |
| NG_028165.1:g.6924G>T | |
| NG_009793.4:g.759G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.246G>T | ||
| ENST00000697612.1:n.924G>T | ||
| ENST00000374881.3:c.213G>T | ENSP00000364015.2:p.Thr71= | |
| ENST00000374882.8:c.225G>T MANE Select | ENSP00000364016.4:p.Thr75= | |
| ENST00000650411.1:n.1546G>T | ||
| ENST00000650793.1:n.246G>T | ||
| ENST00000374881.2:c.213G>T | ENSP00000364015.2:p.Thr71= | |
| ENST00000374882.7:c.225G>T | ENSP00000364016.3:p.Thr75= | |
| ENST00000395339.7:c.225G>T | ENSP00000378748.3:p.Thr75= | |
| ENST00000484003.1:n.451G>T | ||
| NM_004159.4:c.213G>T | NP_004150.1:p.Thr71= | |
| NM_148919.3:c.225G>T | NP_683720.2:p.Thr75= | |
| NM_148919.4:c.225G>T MANE Select | NP_683720.2:p.Thr75= | |
| NM_004159.5:c.213G>T | NP_004150.1:p.Thr71= |