Linked Data
dbSNP Id:
rs566820305
ExAC:
11:70319334 G / A
gnomAD v2:
11-70319334-G-A
gnomAD v3:
11-70473229-G-A
gnomAD v4:
11-70473229-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70473229G>A , CM000673.2:g.70473229G>A | GRCh38 |
| NC_000011.9:g.70319334G>A , CM000673.1:g.70319334G>A | GRCh37 |
| NC_000011.8:g.69996982G>A | NCBI36 |
| NG_042866.1:g.656568C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338508.9:c.3423C>T | ENSP00000345193.7:p.Thr1141= | |
| ENST00000412252.6:c.968C>T | ENSP00000414876.2:n.968C>T | |
| ENST00000601538.6:c.5190C>T MANE Select | ENSP00000469689.2:p.Thr1730= | |
| ENST00000654939.1:c.2699C>T | ||
| ENST00000656230.1:c.4053C>T | ENSP00000499561.1:p.Thr1351= | |
| ENST00000659264.1:c.3480C>T | ENSP00000499270.1:p.Thr1160= | |
| ENST00000338508.8:c.3426C>T | ENSP00000345193.6:p.Thr1142= | |
| ENST00000357171.7:c.*194C>T | ENSP00000349694.4:n.*194C>T | |
| ENST00000409161.5:c.3402C>T | ENSP00000386491.1:p.Thr1134= | |
| ENST00000412252.5:c.966C>T | ||
| ENST00000423696.6:c.4053C>T | ENSP00000394536.2:p.Thr1351= | |
| ENST00000424924.5:c.3027C>T | ENSP00000402944.1:p.Thr1009= | |
| ENST00000449833.6:c.3426C>T | ENSP00000399423.3:p.Thr1142= | |
| ENST00000601538.5:c.5190C>T | ENSP00000469689.2:p.Thr1730= | |
| ENST00000606715.3:n.1942C>T | ||
| NM_012309.4:c.5190C>T | NP_036441.2:p.Thr1730= | |
| NM_133266.4:c.3426C>T | NP_573573.2:p.Thr1142= | |
| NR_110766.1:n.1044C>T | ||
| XM_005277930.2:c.5190C>T | XP_005277987.1:p.Thr1730= | |
| XM_005277932.2:c.4053C>T | XP_005277989.1:p.Thr1351= | |
| XM_006718478.2:c.5160C>T | XP_006718541.1:p.Thr1720= | |
| XM_011544854.1:c.5202C>T | XP_011543156.1:p.Thr1734= | |
| XM_011544855.1:c.5181C>T | XP_011543157.1:p.Thr1727= | |
| XM_011544856.1:c.5175C>T | XP_011543158.1:p.Thr1725= | |
| XM_011544857.1:c.5154C>T | XP_011543159.1:p.Thr1718= | |
| XM_011544859.1:c.4065C>T | XP_011543161.1:p.Thr1355= | |
| XM_005277932.3:c.4053C>T | XP_005277989.1:p.Thr1351= | |
| XM_017017387.1:c.5190C>T | XP_016872876.1:p.Thr1730= | |
| XM_017017388.1:c.5190C>T | XP_016872877.1:p.Thr1730= | |
| XM_017017389.1:c.5163C>T | XP_016872878.1:p.Thr1721= | |
| XM_017017390.1:c.3480C>T | XP_016872879.1:p.Thr1160= | |
| NM_133266.5:c.3426C>T | NP_573573.2:p.Thr1142= | |
| NR_110766.2:n.1045C>T | ||
| NM_001379226.1:c.4053C>T | NP_001366155.1:p.Thr1351= | |
| NM_012309.5:c.5190C>T MANE Select | NP_036441.2:p.Thr1730= |