Linked Data
ClinVar Variation Id:
1178494
ClinVar RCV Id:
RCV001534789
dbSNP Id:
rs7220915
gnomAD v2:
17-6599365-T-C
gnomAD v3:
17-6696046-T-C
gnomAD v4:
17-6696046-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6696046T>C , CM000679.2:g.6696046T>C | GRCh38 |
| NC_000017.10:g.6599365T>C , CM000679.1:g.6599365T>C | GRCh37 |
| NC_000017.9:g.6540089T>C | NCBI36 |
| NG_034220.1:g.22376A>G , LRG_1020:g.22376A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.840-105A>G MANE Select | ENSP00000406220.2:n.840-105A>G | |
| ENST00000293800.10:c.789-105A>G | ENSP00000293800.6:n.789-105A>G | |
| ENST00000381074.8:c.711-105A>G | ENSP00000370464.4:n.711-105A>G | |
| ENST00000433363.6:c.840-105A>G | ENSP00000406220.2:n.840-105A>G | |
| ENST00000572094.1:c.*590-105A>G | ENSP00000461495.1:n.*590-105A>G | |
| ENST00000573648.5:c.840-105A>G | ENSP00000459372.1:n.840-105A>G | |
| ENST00000574824.5:n.1973-105A>G | ||
| NM_001143838.2:c.840-105A>G | NP_001137310.1:n.840-105A>G | |
| NM_001284509.1:c.789-105A>G | NP_001271438.1:n.789-105A>G | |
| NM_001284510.1:c.711-105A>G | NP_001271439.1:n.711-105A>G | |
| NM_177550.4:c.840-105A>G , LRG_1020t1:c.840-105A>G | NP_808218.1:n.840-105A>G | |
| XM_006721504.2:c.729-105A>G | XP_006721567.1:n.729-105A>G | |
| XM_011523795.1:c.840-105A>G | XP_011522097.1:n.840-105A>G | |
| XM_011523795.3:c.840-105A>G | XP_011522097.1:n.840-105A>G | |
| NM_001143838.3:c.840-105A>G | NP_001137310.1:n.840-105A>G | |
| NM_001284509.2:c.789-105A>G | NP_001271438.1:n.789-105A>G | |
| NM_001284510.2:c.711-105A>G | NP_001271439.1:n.711-105A>G | |
| NM_177550.5:c.840-105A>G MANE Select | NP_808218.1:n.840-105A>G |