Linked Data
ClinVar Variation Id:
1584470
ClinVar RCV Id:
RCV002102614
dbSNP Id:
rs1405611766
gnomAD v2:
17-7125640-G-C
gnomAD v4:
17-7222321-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222321G>C , CM000679.2:g.7222321G>C | GRCh38 |
| NC_000017.10:g.7125640G>C , CM000679.1:g.7125640G>C | GRCh37 |
| NC_000017.9:g.7066364G>C | NCBI36 |
| NG_007975.1:g.7488G>C | |
| NG_008391.2:g.2730C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.878+19G>C MANE Select | ENSP00000349297.5:n.878+19G>C | |
| ENST00000322910.9:c.*833+19G>C | ENSP00000325395.5:n.*833+19G>C | |
| ENST00000350303.9:c.812+19G>C | ENSP00000344152.5:n.812+19G>C | |
| ENST00000356839.9:c.878+19G>C | ENSP00000349297.5:n.878+19G>C | |
| ENST00000543245.6:c.947+19G>C | ENSP00000438689.2:n.947+19G>C | |
| ENST00000577191.5:n.1069G>C | ||
| ENST00000581378.5:c.596+19G>C | ||
| ENST00000582379.1:n.262+19G>C | ||
| NM_000018.3:c.878+19G>C | NP_000009.1:n.878+19G>C | |
| NM_001033859.2:c.812+19G>C | NP_001029031.1:n.812+19G>C | |
| NM_001270447.1:c.947+19G>C | NP_001257376.1:n.947+19G>C | |
| NM_001270448.1:c.650+19G>C | NP_001257377.1:n.650+19G>C | |
| XM_006721516.2:c.878+19G>C | XP_006721579.2:n.878+19G>C | |
| XM_011523829.1:c.878+19G>C | XP_011522131.1:n.878+19G>C | |
| XM_011523830.1:c.878+19G>C | XP_011522132.1:n.878+19G>C | |
| XR_934021.1:n.985+19G>C | ||
| XR_934022.1:n.985+19G>C | ||
| XR_934023.1:n.985+19G>C | ||
| XM_006721516.3:c.878+19G>C | XP_006721579.2:n.878+19G>C | |
| XM_011523829.2:c.878+19G>C | XP_011522131.1:n.878+19G>C | |
| XM_011523830.2:c.878+19G>C | XP_011522132.1:n.878+19G>C | |
| XM_024450741.1:c.878+19G>C | XP_024306509.1:n.878+19G>C | |
| XR_934021.2:n.937+19G>C | ||
| XR_934022.2:n.937+19G>C | ||
| XR_934023.2:n.937+19G>C | ||
| NM_000018.4:c.878+19G>C MANE Select | NP_000009.1:n.878+19G>C | |
| NM_001033859.3:c.812+19G>C | NP_001029031.1:n.812+19G>C | |
| NM_001270447.2:c.947+19G>C | NP_001257376.1:n.947+19G>C | |
| NM_001270448.2:c.650+19G>C | NP_001257377.1:n.650+19G>C |