Linked Data
dbSNP Id:
rs782046119
ExAC:
11:70319239 C / G
gnomAD v2:
11-70319239-C-G
gnomAD v4:
11-70473134-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70473134C>G , CM000673.2:g.70473134C>G | GRCh38 |
| NC_000011.9:g.70319239C>G , CM000673.1:g.70319239C>G | GRCh37 |
| NC_000011.8:g.69996887C>G | NCBI36 |
| NG_042866.1:g.656663G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338508.9:c.3518G>C | ENSP00000345193.7:p.Arg1173Thr | |
| ENST00000412252.6:c.1063G>C | ENSP00000414876.2:n.1063G>C | |
| ENST00000601538.6:c.5285G>C MANE Select | ENSP00000469689.2:p.Arg1762Thr | |
| ENST00000654939.1:c.2794G>C | ||
| ENST00000656230.1:c.4148G>C | ENSP00000499561.1:p.Arg1383Thr | |
| ENST00000659264.1:c.3575G>C | ENSP00000499270.1:p.Arg1192Thr | |
| ENST00000338508.8:c.3521G>C | ENSP00000345193.6:p.Arg1174Thr | |
| ENST00000357171.7:c.*289G>C | ENSP00000349694.4:n.*289G>C | |
| ENST00000409161.5:c.3497G>C | ENSP00000386491.1:p.Arg1166Thr | |
| ENST00000412252.5:c.1061G>C | ||
| ENST00000423696.6:c.4148G>C | ENSP00000394536.2:p.Arg1383Thr | |
| ENST00000424924.5:c.3122G>C | ENSP00000402944.1:p.Arg1041Thr | |
| ENST00000449833.6:c.3521G>C | ENSP00000399423.3:p.Arg1174Thr | |
| ENST00000601538.5:c.5285G>C | ENSP00000469689.2:p.Arg1762Thr | |
| ENST00000606715.3:n.2037G>C | ||
| NM_012309.4:c.5285G>C | NP_036441.2:p.Arg1762Thr | |
| NM_133266.4:c.3521G>C | NP_573573.2:p.Arg1174Thr | |
| NR_110766.1:n.1139G>C | ||
| XM_005277930.2:c.5285G>C | XP_005277987.1:p.Arg1762Thr | |
| XM_005277932.2:c.4148G>C | XP_005277989.1:p.Arg1383Thr | |
| XM_006718478.2:c.5255G>C | XP_006718541.1:p.Arg1752Thr | |
| XM_011544854.1:c.5297G>C | XP_011543156.1:p.Arg1766Thr | |
| XM_011544855.1:c.5276G>C | XP_011543157.1:p.Arg1759Thr | |
| XM_011544856.1:c.5270G>C | XP_011543158.1:p.Arg1757Thr | |
| XM_011544857.1:c.5249G>C | XP_011543159.1:p.Arg1750Thr | |
| XM_011544859.1:c.4160G>C | XP_011543161.1:p.Arg1387Thr | |
| XM_005277932.3:c.4148G>C | XP_005277989.1:p.Arg1383Thr | |
| XM_017017387.1:c.5285G>C | XP_016872876.1:p.Arg1762Thr | |
| XM_017017388.1:c.5285G>C | XP_016872877.1:p.Arg1762Thr | |
| XM_017017389.1:c.5258G>C | XP_016872878.1:p.Arg1753Thr | |
| XM_017017390.1:c.3575G>C | XP_016872879.1:p.Arg1192Thr | |
| NM_133266.5:c.3521G>C | NP_573573.2:p.Arg1174Thr | |
| NR_110766.2:n.1140G>C | ||
| NM_001379226.1:c.4148G>C | NP_001366155.1:p.Arg1383Thr | |
| NM_012309.5:c.5285G>C MANE Select | NP_036441.2:p.Arg1762Thr |