Linked Data
ClinVar Variation Id:
324241
ClinVar RCV Id:
RCV000342728
dbSNP Id:
rs3744448
ExAC:
17:59533868 G / C
gnomAD v2:
17-59533868-G-C
gnomAD v3:
17-61456507-G-C
gnomAD v4:
17-61456507-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61456507G>C , CM000679.2:g.61456507G>C | GRCh38 |
| NC_000017.10:g.59533868G>C , CM000679.1:g.59533868G>C | GRCh37 |
| NC_000017.9:g.56888650G>C | NCBI36 |
| NG_008080.1:g.5062G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642491.1:c.17G>C | ENSP00000495714.1:p.Gly6Ala | |
| ENST00000644296.1:c.17G>C MANE Select | ENSP00000495986.1:p.Gly6Ala | |
| ENST00000240335.1:c.17G>C | ENSP00000240335.1:p.Gly6Ala | |
| ENST00000393853.8:c.17G>C | ENSP00000377435.3:p.Gly6Ala | |
| ENST00000589003.5:c.-125-117G>C | ENSP00000467588.1:n.-125-117G>C | |
| NM_018488.2:c.17G>C | NP_060958.2:p.Gly6Ala | |
| XM_005257835.3:c.17G>C | XP_005257892.2:p.Gly6Ala | |
| XM_005257837.2:c.17G>C | XP_005257894.1:p.Gly6Ala | |
| XM_011525490.1:c.206G>C | XP_011523792.1:p.Gly69Ala | |
| XM_011525491.1:c.206G>C | XP_011523793.1:p.Gly69Ala | |
| XM_011525492.1:c.17G>C | XP_011523794.1:p.Gly6Ala | |
| XM_011525493.1:c.17G>C | XP_011523795.1:p.Gly6Ala | |
| XM_011525494.1:c.17G>C | XP_011523796.1:p.Gly6Ala | |
| XM_011525495.1:c.206G>C | XP_011523797.1:p.Gly69Ala | |
| NM_001321120.2:c.17G>C MANE Select | NP_001308049.1:p.Gly6Ala | |
| NM_018488.3:c.17G>C | NP_060958.2:p.Gly6Ala | |
| XM_011525490.2:c.206G>C | XP_011523792.1:p.Gly69Ala | |
| XM_011525491.2:c.206G>C | XP_011523793.1:p.Gly69Ala | |
| XM_011525495.2:c.206G>C | XP_011523797.1:p.Gly69Ala |