Linked Data
ClinVar Variation Id:
2642071
ClinVar RCV Id:
RCV003398074
dbSNP Id:
rs142444295
ExAC:
11:70319510 G / C
gnomAD v2:
11-70319510-G-C
gnomAD v3:
11-70473405-G-C
gnomAD v4:
11-70473405-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70473405G>C , CM000673.2:g.70473405G>C | GRCh38 |
| NC_000011.9:g.70319510G>C , CM000673.1:g.70319510G>C | GRCh37 |
| NC_000011.8:g.69997158G>C | NCBI36 |
| NG_042866.1:g.656392C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338508.9:c.3247C>G | ENSP00000345193.7:p.Arg1083Gly | |
| ENST00000412252.6:c.792C>G | ENSP00000414876.2:n.792C>G | |
| ENST00000601538.6:c.5014C>G MANE Select | ENSP00000469689.2:p.Arg1672Gly | |
| ENST00000654939.1:c.2523C>G | ||
| ENST00000656230.1:c.3877C>G | ENSP00000499561.1:p.Arg1293Gly | |
| ENST00000659264.1:c.3304C>G | ENSP00000499270.1:p.Arg1102Gly | |
| ENST00000338508.8:c.3250C>G | ENSP00000345193.6:p.Arg1084Gly | |
| ENST00000357171.7:c.*18C>G | ENSP00000349694.4:n.*18C>G | |
| ENST00000409161.5:c.3226C>G | ENSP00000386491.1:p.Arg1076Gly | |
| ENST00000412252.5:c.790C>G | ||
| ENST00000423696.6:c.3877C>G | ENSP00000394536.2:p.Arg1293Gly | |
| ENST00000424924.5:c.2851C>G | ENSP00000402944.1:p.Arg951Gly | |
| ENST00000449833.6:c.3250C>G | ENSP00000399423.3:p.Arg1084Gly | |
| ENST00000601538.5:c.5014C>G | ENSP00000469689.2:p.Arg1672Gly | |
| ENST00000606715.3:n.1766C>G | ||
| NM_012309.4:c.5014C>G | NP_036441.2:p.Arg1672Gly | |
| NM_133266.4:c.3250C>G | NP_573573.2:p.Arg1084Gly | |
| NR_110766.1:n.868C>G | ||
| XM_005277930.2:c.5014C>G | XP_005277987.1:p.Arg1672Gly | |
| XM_005277932.2:c.3877C>G | XP_005277989.1:p.Arg1293Gly | |
| XM_006718478.2:c.4984C>G | XP_006718541.1:p.Arg1662Gly | |
| XM_011544854.1:c.5026C>G | XP_011543156.1:p.Arg1676Gly | |
| XM_011544855.1:c.5005C>G | XP_011543157.1:p.Arg1669Gly | |
| XM_011544856.1:c.4999C>G | XP_011543158.1:p.Arg1667Gly | |
| XM_011544857.1:c.4978C>G | XP_011543159.1:p.Arg1660Gly | |
| XM_011544859.1:c.3889C>G | XP_011543161.1:p.Arg1297Gly | |
| XM_005277932.3:c.3877C>G | XP_005277989.1:p.Arg1293Gly | |
| XM_017017387.1:c.5014C>G | XP_016872876.1:p.Arg1672Gly | |
| XM_017017388.1:c.5014C>G | XP_016872877.1:p.Arg1672Gly | |
| XM_017017389.1:c.4987C>G | XP_016872878.1:p.Arg1663Gly | |
| XM_017017390.1:c.3304C>G | XP_016872879.1:p.Arg1102Gly | |
| NM_133266.5:c.3250C>G | NP_573573.2:p.Arg1084Gly | |
| NR_110766.2:n.869C>G | ||
| NM_001379226.1:c.3877C>G | NP_001366155.1:p.Arg1293Gly | |
| NM_012309.5:c.5014C>G MANE Select | NP_036441.2:p.Arg1672Gly |