Linked Data
ClinVar Variation Id:
347267
ClinVar RCV Id:
RCV000360186
dbSNP Id:
rs539507877
gnomAD v2:
4-110932812-A-C
gnomAD v3:
4-110011656-A-C
gnomAD v4:
4-110011656-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.110011656A>C , CM000666.2:g.110011656A>C | GRCh38 |
| NC_000004.11:g.110932812A>C , CM000666.1:g.110932812A>C | GRCh37 |
| NC_000004.10:g.111152261A>C | NCBI36 |
| NG_011441.1:g.103773A>C | |
| NG_011441.2:g.103773A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265171.10:c.*201A>C MANE Select | ENSP00000265171.5:n.*201A>C | |
| ENST00000652245.1:c.*344A>C | ENSP00000498337.1:n.*344A>C | |
| ENST00000265171.9:c.*201A>C | ENSP00000265171.5:n.*201A>C | |
| ENST00000509793.5:c.*201A>C | ENSP00000424316.1:n.*201A>C | |
| ENST00000509996.1:n.1431A>C | ||
| ENST00000540840.1:n.229+348A>C | ||
| NM_001178130.1:c.*201A>C | NP_001171601.1:n.*201A>C | |
| NM_001178131.1:c.*201A>C | NP_001171602.1:n.*201A>C | |
| NM_001963.4:c.*201A>C | NP_001954.2:n.*201A>C | |
| XM_005262796.2:c.*201A>C | XP_005262853.1:n.*201A>C | |
| XM_005262797.2:c.*201A>C | XP_005262854.1:n.*201A>C | |
| XM_005262798.2:c.*201A>C | XP_005262855.1:n.*201A>C | |
| XM_005262800.2:c.*344A>C | XP_005262857.1:n.*344A>C | |
| XM_005262801.2:c.*201A>C | XP_005262858.1:n.*201A>C | |
| XM_006714124.2:c.*344A>C | XP_006714187.1:n.*344A>C | |
| XM_011531707.1:c.*201A>C | XP_011530009.1:n.*201A>C | |
| NM_001178130.2:c.*201A>C | NP_001171601.1:n.*201A>C | |
| NM_001178131.2:c.*201A>C | NP_001171602.1:n.*201A>C | |
| NM_001357021.1:c.*344A>C | NP_001343950.1:n.*344A>C | |
| NM_001963.5:c.*201A>C | NP_001954.2:n.*201A>C | |
| XM_017007845.1:c.*201A>C | XP_016863334.1:n.*201A>C | |
| XM_017007846.1:c.*201A>C | XP_016863335.1:n.*201A>C | |
| XM_017007847.1:c.*201A>C | XP_016863336.1:n.*201A>C | |
| XM_017007848.1:c.*201A>C | XP_016863337.1:n.*201A>C | |
| XM_017007849.1:c.*201A>C | XP_016863338.1:n.*201A>C | |
| XM_017007850.1:c.*344A>C | XP_016863339.1:n.*344A>C | |
| XM_017007851.1:c.*344A>C | XP_016863340.1:n.*344A>C | |
| NM_001178130.3:c.*201A>C | NP_001171601.1:n.*201A>C | |
| NM_001178131.3:c.*201A>C | NP_001171602.1:n.*201A>C | |
| NM_001357021.2:c.*344A>C | NP_001343950.1:n.*344A>C | |
| NM_001963.6:c.*201A>C MANE Select | NP_001954.2:n.*201A>C |