Linked Data
ClinVar Variation Id:
2919132
ClinVar RCV Id:
RCV003751579
dbSNP Id:
rs1832233322
gnomAD v4:
9-128322935-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128322935G>C , CM000671.2:g.128322935G>C | GRCh38 |
| NC_000009.11:g.131085214G>C , CM000671.1:g.131085214G>C | GRCh37 |
| NC_000009.10:g.130125035G>C | NCBI36 |
| NG_042101.1:g.5428G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300452.8:c.70+7G>C MANE Select | ENSP00000300452.3:n.70+7G>C | |
| ENST00000300452.7:c.70+7G>C | ENSP00000300452.3:n.70+7G>C | |
| ENST00000372875.3:c.70+7G>C | ENSP00000361966.3:n.70+7G>C | |
| ENST00000608951.5:c.70+7G>C | ENSP00000476323.1:n.70+7G>C | |
| ENST00000609948.1:c.70+7G>C | ENSP00000477292.1:n.70+7G>C | |
| NM_001305942.1:c.70+7G>C | NP_001292871.1:n.70+7G>C | |
| NM_016035.3:c.70+7G>C | NP_057119.2:n.70+7G>C | |
| NM_016035.4:c.70+7G>C | NP_057119.2:n.70+7G>C | |
| XM_011518761.1:c.70+7G>C | XP_011517063.1:n.70+7G>C | |
| XR_929805.1:n.416+7G>C | ||
| XM_017014792.1:c.70+7G>C | XP_016870281.1:n.70+7G>C | |
| XM_017014793.1:c.70+7G>C | XP_016870282.1:n.70+7G>C | |
| XR_001746316.2:n.420+7G>C | ||
| XR_929805.3:n.416+7G>C | ||
| NM_016035.5:c.70+7G>C MANE Select | NP_057119.3:n.70+7G>C | |
| NM_001305942.2:c.70+7G>C | NP_001292871.2:n.70+7G>C |