Linked Data
ClinVar Variation Id:
2496065
ClinVar RCV Id:
RCV003218763
dbSNP Id:
rs1949755233
gnomAD v4:
13-19993113-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.19993113A>C , CM000675.2:g.19993113A>C | GRCh38 |
| NC_000013.10:g.20567253A>C , CM000675.1:g.20567253A>C | GRCh37 |
| NC_000013.9:g.19465253A>C | NCBI36 |
| NG_023348.2:g.39444A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610343.5:c.41A>C MANE Select | ENSP00000479904.1:p.Gln14Pro | |
| ENST00000382871.3:c.41A>C | ENSP00000372324.2:p.Gln14Pro | |
| ENST00000382874.6:c.41A>C | ENSP00000372327.2:p.Gln14Pro | |
| ENST00000382881.7:n.285A>C | ||
| ENST00000610343.4:c.41A>C | ENSP00000479904.1:p.Gln14Pro | |
| ENST00000620447.1:c.41A>C | ENSP00000483904.1:p.Gln14Pro | |
| NM_001190964.2:c.41A>C | NP_001177893.1:p.Gln14Pro | |
| NM_001190965.2:c.41A>C | NP_001177894.1:p.Gln14Pro | |
| NM_003453.4:c.41A>C | NP_003444.1:p.Gln14Pro | |
| NM_197968.3:c.41A>C | NP_932072.1:p.Gln14Pro | |
| XM_005266517.2:c.41A>C | XP_005266574.1:p.Gln14Pro | |
| XM_005266518.2:c.41A>C | XP_005266575.1:p.Gln14Pro | |
| XM_005266519.2:c.41A>C | XP_005266576.1:p.Gln14Pro | |
| XM_005266520.2:c.41A>C | XP_005266577.1:p.Gln14Pro | |
| XM_011535215.1:c.41A>C | XP_011533517.1:p.Gln14Pro | |
| XM_011535216.1:c.107A>C | XP_011533518.1:p.Gln36Pro | |
| XM_011535217.1:c.107A>C | XP_011533519.1:p.Gln36Pro | |
| XM_011535218.1:c.41A>C | XP_011533520.1:p.Gln14Pro | |
| XM_011535219.1:c.41A>C | XP_011533521.1:p.Gln14Pro | |
| XM_011535220.1:c.41A>C | XP_011533522.1:p.Gln14Pro | |
| XM_011535221.1:c.41A>C | XP_011533523.1:p.Gln14Pro | |
| XM_011535222.1:c.107A>C | XP_011533524.1:p.Gln36Pro | |
| XR_941650.1:n.182A>C | ||
| XR_941652.1:n.182A>C | ||
| NM_001353157.1:c.41A>C | NP_001340086.1:p.Gln14Pro | |
| NM_001353159.1:c.41A>C | NP_001340088.1:p.Gln14Pro | |
| NM_001353161.1:c.107A>C | NP_001340090.1:p.Gln36Pro | |
| NM_001353162.1:c.41A>C | NP_001340091.1:p.Gln14Pro | |
| NM_001353163.1:c.41A>C | NP_001340092.1:p.Gln14Pro | |
| NM_001353164.1:c.41A>C | NP_001340093.1:p.Gln14Pro | |
| NM_001353165.1:c.41A>C | NP_001340094.1:p.Gln14Pro | |
| NR_148365.1:n.264A>C | ||
| XM_005266520.3:c.41A>C | XP_005266577.1:p.Gln14Pro | |
| XM_011535222.2:c.107A>C | XP_011533524.1:p.Gln36Pro | |
| XM_017020731.1:c.41A>C | XP_016876220.1:p.Gln14Pro | |
| XM_017020732.1:c.41A>C | XP_016876221.1:p.Gln14Pro | |
| XM_017020733.2:c.41A>C | XP_016876222.1:p.Gln14Pro | |
| XM_017020734.2:c.41A>C | XP_016876223.1:p.Gln14Pro | |
| XM_017020735.1:c.41A>C | XP_016876224.1:p.Gln14Pro | |
| XM_017020737.1:c.41A>C | XP_016876226.1:p.Gln14Pro | |
| XM_024449406.1:c.107A>C | XP_024305174.1:p.Gln36Pro | |
| XM_024449407.1:c.107A>C | XP_024305175.1:p.Gln36Pro | |
| XM_024449408.1:c.107A>C | XP_024305176.1:p.Gln36Pro | |
| XR_001749659.1:n.235A>C | ||
| XR_001749660.1:n.270A>C | ||
| XR_941650.3:n.177A>C | ||
| XR_941652.3:n.177A>C | ||
| NM_001190964.3:c.41A>C | NP_001177893.1:p.Gln14Pro | |
| NM_001190965.3:c.41A>C | NP_001177894.1:p.Gln14Pro | |
| NM_001353161.2:c.107A>C | NP_001340090.1:p.Gln36Pro | |
| NM_001353162.2:c.41A>C | NP_001340091.1:p.Gln14Pro | |
| NM_003453.5:c.41A>C | NP_003444.1:p.Gln14Pro | |
| NM_001190964.4:c.41A>C | NP_001177893.1:p.Gln14Pro | |
| NM_001190965.4:c.41A>C | NP_001177894.1:p.Gln14Pro | |
| NM_001353157.2:c.41A>C | NP_001340086.1:p.Gln14Pro | |
| NM_001353159.2:c.41A>C | NP_001340088.1:p.Gln14Pro | |
| NM_001353161.3:c.107A>C | NP_001340090.1:p.Gln36Pro | |
| NM_001353162.3:c.41A>C | NP_001340091.1:p.Gln14Pro | |
| NM_001353163.2:c.41A>C | NP_001340092.1:p.Gln14Pro | |
| NM_001353164.2:c.41A>C | NP_001340093.1:p.Gln14Pro | |
| NM_001353165.2:c.41A>C | NP_001340094.1:p.Gln14Pro | |
| NM_003453.6:c.41A>C | NP_003444.1:p.Gln14Pro | |
| NM_197968.4:c.41A>C MANE Select | NP_932072.1:p.Gln14Pro | |
| NR_148365.2:n.235A>C |