Linked Data
ClinVar Variation Id:
1667185
ClinVar RCV Id:
RCV002188812
dbSNP Id:
rs745433070
gnomAD v4:
17-42536626-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536626G>C , CM000679.2:g.42536626G>C | GRCh38 |
| NC_000017.10:g.40688644G>C , CM000679.1:g.40688644G>C | GRCh37 |
| NC_000017.9:g.37942170G>C | NCBI36 |
| NG_011552.1:g.5694G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.354G>C MANE Select | ENSP00000225927.1:p.Pro118= | |
| ENST00000225927.6:c.354G>C | ENSP00000225927.1:p.Pro118= | |
| ENST00000586516.5:c.104G>C | ||
| ENST00000591587.1:c.97G>C | ENSP00000467836.1:p.Gly33Arg | |
| NM_000263.3:c.354G>C | NP_000254.2:p.Pro118= | |
| XM_006721920.2:c.-389G>C | XP_006721983.1:n.-389G>C | |
| XM_011524840.1:c.-389G>C | XP_011523142.1:n.-389G>C | |
| XM_024450771.1:c.354G>C | XP_024306539.1:p.Pro118= | |
| NM_000263.4:c.354G>C MANE Select | NP_000254.2:p.Pro118= |