Linked Data
dbSNP Id:
rs1555149292
gnomAD v2:
11-70319483-G-A
gnomAD v3:
11-70473378-G-A
gnomAD v4:
11-70473378-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70473378G>A , CM000673.2:g.70473378G>A | GRCh38 |
| NC_000011.9:g.70319483G>A , CM000673.1:g.70319483G>A | GRCh37 |
| NC_000011.8:g.69997131G>A | NCBI36 |
| NG_042866.1:g.656419C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338508.9:c.3274C>T | ENSP00000345193.7:p.Arg1092Cys | |
| ENST00000412252.6:c.819C>T | ENSP00000414876.2:n.819C>T | |
| ENST00000601538.6:c.5041C>T MANE Select | ENSP00000469689.2:p.Arg1681Cys | |
| ENST00000654939.1:c.2550C>T | ||
| ENST00000656230.1:c.3904C>T | ENSP00000499561.1:p.Arg1302Cys | |
| ENST00000659264.1:c.3331C>T | ENSP00000499270.1:p.Arg1111Cys | |
| ENST00000338508.8:c.3277C>T | ENSP00000345193.6:p.Arg1093Cys | |
| ENST00000357171.7:c.*45C>T | ENSP00000349694.4:n.*45C>T | |
| ENST00000409161.5:c.3253C>T | ENSP00000386491.1:p.Arg1085Cys | |
| ENST00000412252.5:c.817C>T | ||
| ENST00000423696.6:c.3904C>T | ENSP00000394536.2:p.Arg1302Cys | |
| ENST00000424924.5:c.2878C>T | ENSP00000402944.1:p.Arg960Cys | |
| ENST00000449833.6:c.3277C>T | ENSP00000399423.3:p.Arg1093Cys | |
| ENST00000601538.5:c.5041C>T | ENSP00000469689.2:p.Arg1681Cys | |
| ENST00000606715.3:n.1793C>T | ||
| NM_012309.4:c.5041C>T | NP_036441.2:p.Arg1681Cys | |
| NM_133266.4:c.3277C>T | NP_573573.2:p.Arg1093Cys | |
| NR_110766.1:n.895C>T | ||
| XM_005277930.2:c.5041C>T | XP_005277987.1:p.Arg1681Cys | |
| XM_005277932.2:c.3904C>T | XP_005277989.1:p.Arg1302Cys | |
| XM_006718478.2:c.5011C>T | XP_006718541.1:p.Arg1671Cys | |
| XM_011544854.1:c.5053C>T | XP_011543156.1:p.Arg1685Cys | |
| XM_011544855.1:c.5032C>T | XP_011543157.1:p.Arg1678Cys | |
| XM_011544856.1:c.5026C>T | XP_011543158.1:p.Arg1676Cys | |
| XM_011544857.1:c.5005C>T | XP_011543159.1:p.Arg1669Cys | |
| XM_011544859.1:c.3916C>T | XP_011543161.1:p.Arg1306Cys | |
| XM_005277932.3:c.3904C>T | XP_005277989.1:p.Arg1302Cys | |
| XM_017017387.1:c.5041C>T | XP_016872876.1:p.Arg1681Cys | |
| XM_017017388.1:c.5041C>T | XP_016872877.1:p.Arg1681Cys | |
| XM_017017389.1:c.5014C>T | XP_016872878.1:p.Arg1672Cys | |
| XM_017017390.1:c.3331C>T | XP_016872879.1:p.Arg1111Cys | |
| NM_133266.5:c.3277C>T | NP_573573.2:p.Arg1093Cys | |
| NR_110766.2:n.896C>T | ||
| NM_001379226.1:c.3904C>T | NP_001366155.1:p.Arg1302Cys | |
| NM_012309.5:c.5041C>T MANE Select | NP_036441.2:p.Arg1681Cys |