Linked Data
ClinVar Variation Id:
3005127
ClinVar RCV Id:
RCV003868254
dbSNP Id:
rs1260924847
gnomAD v2:
17-7125632-T-G
gnomAD v3:
17-7222313-T-G
gnomAD v4:
17-7222313-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222313T>G , CM000679.2:g.7222313T>G | GRCh38 |
| NC_000017.10:g.7125632T>G , CM000679.1:g.7125632T>G | GRCh37 |
| NC_000017.9:g.7066356T>G | NCBI36 |
| NG_007975.1:g.7480T>G | |
| NG_008391.2:g.2738A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.878+11T>G MANE Select | ENSP00000349297.5:n.878+11T>G | |
| ENST00000322910.9:c.*833+11T>G | ENSP00000325395.5:n.*833+11T>G | |
| ENST00000350303.9:c.812+11T>G | ENSP00000344152.5:n.812+11T>G | |
| ENST00000356839.9:c.878+11T>G | ENSP00000349297.5:n.878+11T>G | |
| ENST00000543245.6:c.947+11T>G | ENSP00000438689.2:n.947+11T>G | |
| ENST00000577191.5:n.1061T>G | ||
| ENST00000581378.5:c.596+11T>G | ||
| ENST00000582379.1:n.262+11T>G | ||
| NM_000018.3:c.878+11T>G | NP_000009.1:n.878+11T>G | |
| NM_001033859.2:c.812+11T>G | NP_001029031.1:n.812+11T>G | |
| NM_001270447.1:c.947+11T>G | NP_001257376.1:n.947+11T>G | |
| NM_001270448.1:c.650+11T>G | NP_001257377.1:n.650+11T>G | |
| XM_006721516.2:c.878+11T>G | XP_006721579.2:n.878+11T>G | |
| XM_011523829.1:c.878+11T>G | XP_011522131.1:n.878+11T>G | |
| XM_011523830.1:c.878+11T>G | XP_011522132.1:n.878+11T>G | |
| XR_934021.1:n.985+11T>G | ||
| XR_934022.1:n.985+11T>G | ||
| XR_934023.1:n.985+11T>G | ||
| XM_006721516.3:c.878+11T>G | XP_006721579.2:n.878+11T>G | |
| XM_011523829.2:c.878+11T>G | XP_011522131.1:n.878+11T>G | |
| XM_011523830.2:c.878+11T>G | XP_011522132.1:n.878+11T>G | |
| XM_024450741.1:c.878+11T>G | XP_024306509.1:n.878+11T>G | |
| XR_934021.2:n.937+11T>G | ||
| XR_934022.2:n.937+11T>G | ||
| XR_934023.2:n.937+11T>G | ||
| NM_000018.4:c.878+11T>G MANE Select | NP_000009.1:n.878+11T>G | |
| NM_001033859.3:c.812+11T>G | NP_001029031.1:n.812+11T>G | |
| NM_001270447.2:c.947+11T>G | NP_001257376.1:n.947+11T>G | |
| NM_001270448.2:c.650+11T>G | NP_001257377.1:n.650+11T>G |