Linked Data
ClinVar Variation Id:
2168103
ClinVar RCV Id:
RCV003092822
dbSNP Id:
rs973544618
gnomAD v2:
17-40688676-A-G
gnomAD v3:
17-42536658-A-G
gnomAD v4:
17-42536658-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536658A>G , CM000679.2:g.42536658A>G | GRCh38 |
| NC_000017.10:g.40688676A>G , CM000679.1:g.40688676A>G | GRCh37 |
| NC_000017.9:g.37942202A>G | NCBI36 |
| NG_011552.1:g.5726A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.383+3A>G MANE Select | ENSP00000225927.1:n.383+3A>G | |
| ENST00000225927.6:c.383+3A>G | ENSP00000225927.1:n.383+3A>G | |
| ENST00000586516.5:c.133+3A>G | ||
| ENST00000591587.1:c.126+3A>G | ENSP00000467836.1:n.126+3A>G | |
| NM_000263.3:c.383+3A>G | NP_000254.2:n.383+3A>G | |
| XM_006721920.2:c.-360+3A>G | XP_006721983.1:n.-360+3A>G | |
| XM_011524840.1:c.-360+3A>G | XP_011523142.1:n.-360+3A>G | |
| XM_024450771.1:c.383+3A>G | XP_024306539.1:n.383+3A>G | |
| NM_000263.4:c.383+3A>G MANE Select | NP_000254.2:n.383+3A>G |