Linked Data
dbSNP Id:
rs1366768371
gnomAD v2:
4-100341741-T-A
gnomAD v3:
4-99420584-T-A
gnomAD v4:
4-99420584-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420584T>A , CM000666.2:g.99420584T>A | GRCh38 |
| NC_000004.11:g.100341741T>A , CM000666.1:g.100341741T>A | GRCh37 |
| NC_000004.10:g.100560764T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.774A>T MANE Select | ENSP00000414254.2:p.Thr258= | |
| ENST00000209665.8:c.810A>T | ENSP00000209665.4:p.Thr270= | |
| ENST00000437033.6:c.774A>T | ENSP00000414254.2:p.Thr258= | |
| ENST00000476959.5:c.834A>T | ENSP00000420269.1:p.Thr278= | |
| ENST00000482593.5:c.603A>T | ENSP00000420613.1:p.Thr201= | |
| NM_000673.4:c.810A>T | NP_000664.2:p.Thr270= | |
| NM_001166504.1:c.834A>T | NP_001159976.1:p.Thr278= | |
| NM_000673.7:c.774A>T MANE Select | NP_000664.3:p.Thr258= | |
| NM_001166504.2:c.834A>T | NP_001159976.1:p.Thr278= |