Linked Data
ClinVar Variation Id:
1126054
dbSNP Id:
rs910644475
gnomAD v2:
17-7125629-A-C
gnomAD v3:
17-7222310-A-C
gnomAD v4:
17-7222310-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222310A>C , CM000679.2:g.7222310A>C | GRCh38 |
| NC_000017.10:g.7125629A>C , CM000679.1:g.7125629A>C | GRCh37 |
| NC_000017.9:g.7066353A>C | NCBI36 |
| NG_007975.1:g.7477A>C | |
| NG_008391.2:g.2741T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.878+8A>C MANE Select | ENSP00000349297.5:n.878+8A>C | |
| ENST00000322910.9:c.*833+8A>C | ENSP00000325395.5:n.*833+8A>C | |
| ENST00000350303.9:c.812+8A>C | ENSP00000344152.5:n.812+8A>C | |
| ENST00000356839.9:c.878+8A>C | ENSP00000349297.5:n.878+8A>C | |
| ENST00000543245.6:c.947+8A>C | ENSP00000438689.2:n.947+8A>C | |
| ENST00000577191.5:n.1058A>C | ||
| ENST00000581378.5:c.596+8A>C | ||
| ENST00000582379.1:n.262+8A>C | ||
| NM_000018.3:c.878+8A>C | NP_000009.1:n.878+8A>C | |
| NM_001033859.2:c.812+8A>C | NP_001029031.1:n.812+8A>C | |
| NM_001270447.1:c.947+8A>C | NP_001257376.1:n.947+8A>C | |
| NM_001270448.1:c.650+8A>C | NP_001257377.1:n.650+8A>C | |
| XM_006721516.2:c.878+8A>C | XP_006721579.2:n.878+8A>C | |
| XM_011523829.1:c.878+8A>C | XP_011522131.1:n.878+8A>C | |
| XM_011523830.1:c.878+8A>C | XP_011522132.1:n.878+8A>C | |
| XR_934021.1:n.985+8A>C | ||
| XR_934022.1:n.985+8A>C | ||
| XR_934023.1:n.985+8A>C | ||
| XM_006721516.3:c.878+8A>C | XP_006721579.2:n.878+8A>C | |
| XM_011523829.2:c.878+8A>C | XP_011522131.1:n.878+8A>C | |
| XM_011523830.2:c.878+8A>C | XP_011522132.1:n.878+8A>C | |
| XM_024450741.1:c.878+8A>C | XP_024306509.1:n.878+8A>C | |
| XR_934021.2:n.937+8A>C | ||
| XR_934022.2:n.937+8A>C | ||
| XR_934023.2:n.937+8A>C | ||
| NM_000018.4:c.878+8A>C MANE Select | NP_000009.1:n.878+8A>C | |
| NM_001033859.3:c.812+8A>C | NP_001029031.1:n.812+8A>C | |
| NM_001270447.2:c.947+8A>C | NP_001257376.1:n.947+8A>C | |
| NM_001270448.2:c.650+8A>C | NP_001257377.1:n.650+8A>C |