Linked Data
ClinVar Variation Id:
596853
dbSNP Id:
rs1268021700
gnomAD v3:
7-138091835-A-C
gnomAD v4:
7-138091835-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138091835A>C , CM000669.2:g.138091835A>C | GRCh38 |
| NC_000007.13:g.137776581A>C , CM000669.1:g.137776581A>C | GRCh37 |
| NC_000007.12:g.137427121A>C | NCBI36 |
| NG_023342.1:g.20404A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242375.8:c.329A>C MANE Select | ENSP00000242375.3:p.Gln110Pro | |
| ENST00000242375.7:c.329A>C | ENSP00000242375.3:p.Gln110Pro | |
| ENST00000411726.6:c.329A>C | ENSP00000402374.2:p.Gln110Pro | |
| ENST00000432161.5:c.329A>C | ENSP00000389197.1:p.Gln110Pro | |
| ENST00000438242.1:c.161A>C | ENSP00000397042.1:p.Gln54Pro | |
| ENST00000468877.2:n.239A>C | ||
| NM_001190906.1:c.329A>C | NP_001177835.1:p.Gln110Pro | |
| NM_001190907.1:c.329A>C | NP_001177836.1:p.Gln110Pro | |
| NM_005989.3:c.329A>C | NP_005980.1:p.Gln110Pro | |
| NM_005989.4:c.329A>C MANE Select | NP_005980.1:p.Gln110Pro | |
| NM_001190906.2:c.329A>C | NP_001177835.1:p.Gln110Pro | |
| NM_001190907.2:c.329A>C | NP_001177836.1:p.Gln110Pro |