Linked Data
ClinVar Variation Id:
2918833
ClinVar RCV Id:
RCV003622380
dbSNP Id:
rs1347222802
gnomAD v2:
19-17940923-A-C
gnomAD v4:
19-17830114-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17830114A>C , CM000681.2:g.17830114A>C | GRCh38 |
| NC_000019.9:g.17940923A>C , CM000681.1:g.17940923A>C | GRCh37 |
| NC_000019.8:g.17801923A>C | NCBI36 |
| NG_007273.1:g.22878T>G , LRG_77:g.22878T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*1758T>G | ENSP00000513006.1:n.*1758T>G | |
| ENST00000696967.1:n.2378T>G | ||
| ENST00000696968.1:n.434T>G | ||
| ENST00000696969.1:n.2158T>G | ||
| ENST00000458235.7:c.3201T>G MANE Select | ENSP00000391676.1:p.Pro1067= | |
| ENST00000458235.5:c.3201T>G | ENSP00000391676.1:p.Pro1067= | |
| ENST00000527031.5:n.2279-4804T>G | ||
| ENST00000527670.5:c.3201T>G | ENSP00000432511.1:p.Pro1067= | |
| ENST00000534444.1:c.3201T>G | ENSP00000436421.1:p.Pro1067= | |
| NM_000215.3:c.3201T>G , LRG_77t1:c.3201T>G | NP_000206.2:p.Pro1067= | |
| XM_005259896.2:c.3330T>G | XP_005259953.1:p.Pro1110= | |
| XM_006722745.2:c.3201T>G | XP_006722808.1:p.Pro1067= | |
| XM_005259896.3:c.3330T>G | XP_005259953.1:p.Pro1110= | |
| NM_000215.4:c.3201T>G MANE Select | NP_000206.2:p.Pro1067= |