Linked Data
dbSNP Id:
rs1303291533
gnomAD v2:
11-9163557-C-A
gnomAD v3:
11-9142010-C-A
gnomAD v4:
11-9142010-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9142010C>A , CM000673.2:g.9142010C>A | GRCh38 |
| NC_000011.9:g.9163557C>A , CM000673.1:g.9163557C>A | GRCh37 |
| NC_000011.8:g.9120133C>A | NCBI36 |
| NG_053019.1:g.128326G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.3610G>T MANE Select | ENSP00000328524.3:p.Ala1204Ser | |
| ENST00000525784.6:n.1472G>T | ||
| ENST00000530780.2:c.*3436G>T | ENSP00000433925.1:n.*3436G>T | |
| ENST00000531747.2:n.3281G>T | ||
| ENST00000679446.1:n.3531G>T | ||
| ENST00000679458.1:n.5011G>T | ||
| ENST00000679460.1:n.4672G>T | ||
| ENST00000679568.1:c.3610G>T | ENSP00000505860.1:p.Ala1204Ser | |
| ENST00000679745.1:n.4115G>T | ||
| ENST00000679773.1:n.2771G>T | ||
| ENST00000679926.1:n.4912G>T | ||
| ENST00000679999.1:c.*667G>T | ENSP00000505198.1:n.*667G>T | |
| ENST00000680252.1:c.3277G>T | ||
| ENST00000680294.1:c.3403G>T | ENSP00000506113.1:p.Ala1135Ser | |
| ENST00000680358.1:n.2909G>T | ||
| ENST00000680470.1:c.*1391G>T | ENSP00000505975.1:n.*1391G>T | |
| ENST00000680554.1:c.*143G>T | ENSP00000505621.1:n.*143G>T | |
| ENST00000680576.1:n.5086G>T | ||
| ENST00000680599.1:n.3651G>T | ||
| ENST00000680742.1:c.*143G>T | ENSP00000505206.1:n.*143G>T | |
| ENST00000680791.1:n.2494G>T | ||
| ENST00000680885.1:n.5312G>T | ||
| ENST00000681158.1:c.3194G>T | ||
| ENST00000681203.1:c.3538G>T | ENSP00000506456.1:p.Ala1180Ser | |
| ENST00000681371.1:n.3482G>T | ||
| ENST00000681425.1:n.4088G>T | ||
| ENST00000681639.1:n.1889G>T | ||
| ENST00000328194.7:c.3610G>T | ENSP00000328524.3:p.Ala1204Ser | |
| ENST00000525784.5:c.546G>T | ||
| ENST00000527700.5:n.3172G>T | ||
| ENST00000528725.5:c.306G>T | ||
| ENST00000529977.5:n.1511G>T | ||
| ENST00000530044.5:c.3610G>T | ENSP00000435866.1:p.Ala1204Ser | |
| ENST00000531747.1:c.846G>T | ||
| ENST00000533737.5:c.273G>T | ||
| NM_001243254.1:c.3610G>T | NP_001230183.1:p.Ala1204Ser | |
| NM_015213.3:c.3610G>T | NP_056028.2:p.Ala1204Ser | |
| XM_005252832.1:c.3610G>T | XP_005252889.1:p.Ala1204Ser | |
| XM_011519952.1:c.3610G>T | XP_011518254.1:p.Ala1204Ser | |
| XM_011519953.1:c.1708G>T | XP_011518255.1:p.Ala570Ser | |
| XR_242782.2:n.3792G>T | ||
| XR_930851.1:n.3792G>T | ||
| NM_001348749.1:c.3538G>T | NP_001335678.1:p.Ala1180Ser | |
| NM_001348750.1:c.3322G>T | NP_001335679.1:p.Ala1108Ser | |
| NR_145966.2:n.3784G>T | ||
| NM_015213.4:c.3610G>T MANE Select | NP_056028.2:p.Ala1204Ser | |
| NM_001243254.2:c.3610G>T | NP_001230183.1:p.Ala1204Ser | |
| NM_001348749.2:c.3538G>T | NP_001335678.1:p.Ala1180Ser | |
| NM_001348750.2:c.3322G>T | NP_001335679.1:p.Ala1108Ser |