Linked Data
dbSNP Id:
rs1444805341
gnomAD v2:
11-128709775-T-A
gnomAD v3:
11-128839880-T-A
gnomAD v4:
11-128839880-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128839880T>A , CM000673.2:g.128839880T>A | GRCh38 |
| NC_000011.9:g.128709775T>A , CM000673.1:g.128709775T>A | GRCh37 |
| NC_000011.8:g.128214985T>A | NCBI36 |
| NG_009379.1:g.32494A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.364A>T MANE Select | ENSP00000376434.1:p.Thr122Ser | |
| ENST00000324003.3:c.364A>T | ENSP00000316136.3:p.Thr122Ser | |
| ENST00000324036.7:c.364A>T | ENSP00000316233.3:p.Thr122Ser | |
| ENST00000392664.2:c.421A>T | ENSP00000376432.2:p.Thr141Ser | |
| ENST00000392665.6:c.364A>T | ENSP00000376433.2:p.Thr122Ser | |
| ENST00000392666.5:c.364A>T | ENSP00000376434.1:p.Thr122Ser | |
| ENST00000440599.6:c.364A>T | ENSP00000406320.2:p.Thr122Ser | |
| NM_000220.4:c.421A>T | NP_000211.1:p.Thr141Ser | |
| NM_153764.2:c.364A>T | NP_722448.1:p.Thr122Ser | |
| NM_153765.2:c.415A>T | NP_722449.3:p.Thr139Ser | |
| NM_153766.2:c.364A>T | NP_722450.1:p.Thr122Ser | |
| NM_153767.3:c.364A>T | NP_722451.1:p.Thr122Ser | |
| NM_000220.6:c.421A>T | NP_000211.1:p.Thr141Ser | |
| NM_153764.3:c.364A>T | NP_722448.1:p.Thr122Ser | |
| NM_153765.3:c.415A>T | NP_722449.3:p.Thr139Ser | |
| NM_153766.3:c.364A>T MANE Select | NP_722450.1:p.Thr122Ser | |
| NM_153767.4:c.364A>T | NP_722451.1:p.Thr122Ser |