Linked Data
ClinVar Variation Id:
496946
ClinVar RCV Id:
RCV000591846
RCV001130806
RCV001130807
RCV001130808
RCV000770088
RCV001133775
RCV001130809
dbSNP Id:
rs776790387
ExAC:
2:179595427 A / G
gnomAD v2:
2-179595427-A-G
gnomAD v3:
2-178730700-A-G
gnomAD v4:
2-178730700-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178730700A>G , CM000664.2:g.178730700A>G | GRCh38 |
| NC_000002.11:g.179595427A>G , CM000664.1:g.179595427A>G | GRCh37 |
| NC_000002.10:g.179303672A>G | NCBI36 |
| NG_011618.3:g.105103T>C , LRG_391:g.105103T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.14101T>C | ENSP00000343764.6:p.Ser4701Pro | |
| ENST00000342175.11:c.13858+7382T>C | ENSP00000340554.6:n.13858+7382T>C | |
| ENST00000359218.10:c.13657+7382T>C | ENSP00000352154.5:n.13657+7382T>C | |
| ENST00000342175.10:c.13858+7382T>C | ENSP00000340554.6:n.13858+7382T>C | |
| ENST00000342992.10:c.14101T>C | ENSP00000343764.6:p.Ser4701Pro | |
| ENST00000359218.9:c.13657+7382T>C | ENSP00000352154.5:n.13657+7382T>C | |
| ENST00000460472.6:c.13282+7382T>C | ENSP00000434586.1:n.13282+7382T>C | |
| ENST00000589042.5:c.17833T>C MANE Select | ENSP00000467141.1:p.Ser5945Pro | |
| ENST00000591111.5:c.16882T>C | ENSP00000465570.1:p.Ser5628Pro | |
| ENST00000615779.4:c.16882T>C | ENSP00000483597.1:p.Ser5628Pro | |
| NM_001256850.1:c.16882T>C | NP_001243779.1:p.Ser5628Pro | |
| NM_001267550.2:c.17833T>C MANE Select | NP_001254479.2:p.Ser5945Pro | |
| NM_003319.4:c.13282+7382T>C | NP_003310.4:n.13282+7382T>C | |
| NM_133378.4:c.14101T>C | NP_596869.4:p.Ser4701Pro | |
| NM_133432.3:c.13657+7382T>C | NP_597676.3:n.13657+7382T>C | |
| NM_133437.4:c.13858+7382T>C | NP_597681.4:n.13858+7382T>C | |
| XM_011511729.1:c.16930T>C | XP_011510031.1:p.Ser5644Pro | |
| XM_011511730.1:c.13468+7382T>C | XP_011510032.1:n.13468+7382T>C | |
| XM_011511731.1:c.13327+7382T>C | XP_011510033.1:n.13327+7382T>C | |
| XM_017004819.1:c.16885T>C | XP_016860308.1:p.Ser5629Pro | |
| XM_017004820.1:c.14104T>C | XP_016860309.1:p.Ser4702Pro | |
| XM_017004821.1:c.14101T>C | XP_016860310.1:p.Ser4701Pro | |
| XM_017004822.1:c.16885T>C | XP_016860311.1:p.Ser5629Pro | |
| XM_017004823.1:c.13423+7382T>C | XP_016860312.1:n.13423+7382T>C | |
| XM_024453094.1:c.16885T>C | XP_024308862.1:p.Ser5629Pro | |
| XM_024453095.1:c.16885T>C | XP_024308863.1:p.Ser5629Pro | |
| XM_024453096.1:c.16885T>C | XP_024308864.1:p.Ser5629Pro | |
| XM_024453097.1:c.16885T>C | XP_024308865.1:p.Ser5629Pro | |
| XM_024453098.1:c.16885T>C | XP_024308866.1:p.Ser5629Pro | |
| XM_024453099.1:c.13423+7382T>C | XP_024308867.1:n.13423+7382T>C |