Linked Data
dbSNP Id:
rs759277879
ExAC:
11:9163590 T / A
gnomAD v2:
11-9163590-T-A
gnomAD v4:
11-9142043-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9142043T>A , CM000673.2:g.9142043T>A | GRCh38 |
| NC_000011.9:g.9163590T>A , CM000673.1:g.9163590T>A | GRCh37 |
| NC_000011.8:g.9120166T>A | NCBI36 |
| NG_053019.1:g.128293A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.3577A>T MANE Select | ENSP00000328524.3:p.Thr1193Ser | |
| ENST00000525784.6:n.1439A>T | ||
| ENST00000530780.2:c.*3403A>T | ENSP00000433925.1:n.*3403A>T | |
| ENST00000531747.2:n.3248A>T | ||
| ENST00000679446.1:n.3498A>T | ||
| ENST00000679458.1:n.4978A>T | ||
| ENST00000679460.1:n.4639A>T | ||
| ENST00000679568.1:c.3577A>T | ENSP00000505860.1:p.Thr1193Ser | |
| ENST00000679745.1:n.4082A>T | ||
| ENST00000679773.1:n.2738A>T | ||
| ENST00000679926.1:n.4879A>T | ||
| ENST00000679999.1:c.*634A>T | ENSP00000505198.1:n.*634A>T | |
| ENST00000680252.1:c.3244A>T | ||
| ENST00000680294.1:c.3370A>T | ENSP00000506113.1:p.Thr1124Ser | |
| ENST00000680358.1:n.2876A>T | ||
| ENST00000680470.1:c.*1358A>T | ENSP00000505975.1:n.*1358A>T | |
| ENST00000680554.1:c.*110A>T | ENSP00000505621.1:n.*110A>T | |
| ENST00000680576.1:n.5053A>T | ||
| ENST00000680599.1:n.3618A>T | ||
| ENST00000680742.1:c.*110A>T | ENSP00000505206.1:n.*110A>T | |
| ENST00000680791.1:n.2461A>T | ||
| ENST00000680885.1:n.5279A>T | ||
| ENST00000681158.1:c.3161A>T | ||
| ENST00000681203.1:c.3505A>T | ENSP00000506456.1:p.Thr1169Ser | |
| ENST00000681371.1:n.3449A>T | ||
| ENST00000681425.1:n.4055A>T | ||
| ENST00000681639.1:n.1856A>T | ||
| ENST00000328194.7:c.3577A>T | ENSP00000328524.3:p.Thr1193Ser | |
| ENST00000525784.5:c.513A>T | ||
| ENST00000527700.5:n.3139A>T | ||
| ENST00000528725.5:c.273A>T | ||
| ENST00000529977.5:n.1478A>T | ||
| ENST00000530044.5:c.3577A>T | ENSP00000435866.1:p.Thr1193Ser | |
| ENST00000531747.1:c.813A>T | ||
| ENST00000533737.5:c.240A>T | ||
| NM_001243254.1:c.3577A>T | NP_001230183.1:p.Thr1193Ser | |
| NM_015213.3:c.3577A>T | NP_056028.2:p.Thr1193Ser | |
| XM_005252832.1:c.3577A>T | XP_005252889.1:p.Thr1193Ser | |
| XM_011519952.1:c.3577A>T | XP_011518254.1:p.Thr1193Ser | |
| XM_011519953.1:c.1675A>T | XP_011518255.1:p.Thr559Ser | |
| XR_242782.2:n.3759A>T | ||
| XR_930851.1:n.3759A>T | ||
| NM_001348749.1:c.3505A>T | NP_001335678.1:p.Thr1169Ser | |
| NM_001348750.1:c.3289A>T | NP_001335679.1:p.Thr1097Ser | |
| NR_145966.2:n.3751A>T | ||
| NM_015213.4:c.3577A>T MANE Select | NP_056028.2:p.Thr1193Ser | |
| NM_001243254.2:c.3577A>T | NP_001230183.1:p.Thr1193Ser | |
| NM_001348749.2:c.3505A>T | NP_001335678.1:p.Thr1169Ser | |
| NM_001348750.2:c.3289A>T | NP_001335679.1:p.Thr1097Ser |