Linked Data
ClinVar Variation Id:
202628
ClinVar RCV Id:
RCV000273360
RCV000279393
RCV000315812
RCV000380458
RCV000373977
RCV000865015
RCV001721156
dbSNP Id:
rs727505144
ExAC:
2:179498050 C / G
gnomAD v2:
2-179498050-C-G
gnomAD v3:
2-178633323-C-G
gnomAD v4:
2-178633323-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178633323C>G , CM000664.2:g.178633323C>G | GRCh38 |
| NC_000002.11:g.179498050C>G , CM000664.1:g.179498050C>G | GRCh37 |
| NC_000002.10:g.179206295C>G | NCBI36 |
| NG_011618.3:g.202480G>C , LRG_391:g.202480G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35246G>C | ENSP00000343764.6:p.Arg11749Pro | |
| ENST00000342175.11:c.16331G>C | ENSP00000340554.6:p.Arg5444Pro | |
| ENST00000359218.10:c.16130G>C | ENSP00000352154.5:p.Arg5377Pro | |
| ENST00000342175.10:c.16331G>C | ENSP00000340554.6:p.Arg5444Pro | |
| ENST00000342992.10:c.35246G>C | ENSP00000343764.6:p.Arg11749Pro | |
| ENST00000359218.9:c.16130G>C | ENSP00000352154.5:p.Arg5377Pro | |
| ENST00000460472.6:c.15755G>C | ENSP00000434586.1:p.Arg5252Pro | |
| ENST00000589042.5:c.42950G>C MANE Select | ENSP00000467141.1:p.Arg14317Pro | |
| ENST00000591111.5:c.38027G>C | ENSP00000465570.1:p.Arg12676Pro | |
| ENST00000615779.4:c.38027G>C | ENSP00000483597.1:p.Arg12676Pro | |
| NM_001256850.1:c.38027G>C | NP_001243779.1:p.Arg12676Pro | |
| NM_001267550.2:c.42950G>C MANE Select | NP_001254479.2:p.Arg14317Pro | |
| NM_003319.4:c.15755G>C | NP_003310.4:p.Arg5252Pro | |
| NM_133378.4:c.35246G>C | NP_596869.4:p.Arg11749Pro | |
| NM_133432.3:c.16130G>C | NP_597676.3:p.Arg5377Pro | |
| NM_133437.4:c.16331G>C | NP_597681.4:p.Arg5444Pro | |
| XM_011511729.1:c.42047G>C | XP_011510031.1:p.Arg14016Pro | |
| XM_011511730.1:c.15941G>C | XP_011510032.1:p.Arg5314Pro | |
| XM_011511731.1:c.15800G>C | XP_011510033.1:p.Arg5267Pro | |
| XM_017004819.1:c.41843G>C | XP_016860308.1:p.Arg13948Pro | |
| XM_017004820.1:c.37241G>C | XP_016860309.1:p.Arg12414Pro | |
| XM_017004821.1:c.37238G>C | XP_016860310.1:p.Arg12413Pro | |
| XM_017004822.1:c.34280G>C | XP_016860311.1:p.Arg11427Pro | |
| XM_017004823.1:c.15896G>C | XP_016860312.1:p.Arg5299Pro | |
| XM_024453094.1:c.37391G>C | XP_024308862.1:p.Arg12464Pro | |
| XM_024453095.1:c.37388G>C | XP_024308863.1:p.Arg12463Pro | |
| XM_024453096.1:c.36821G>C | XP_024308864.1:p.Arg12274Pro | |
| XM_024453097.1:c.34163G>C | XP_024308865.1:p.Arg11388Pro | |
| XM_024453098.1:c.34082G>C | XP_024308866.1:p.Arg11361Pro | |
| XM_024453099.1:c.15845G>C | XP_024308867.1:p.Arg5282Pro | |
| XM_024453100.1:c.5699G>C | XP_024308868.1:p.Arg1900Pro |