Linked Data
ClinVar Variation Id:
551695
ClinVar RCV Id:
RCV000666824
dbSNP Id:
rs1555528742
gnomAD v4:
17-7223775-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223775A>G , CM000679.2:g.7223775A>G | GRCh38 |
| NC_000017.10:g.7127094A>G , CM000679.1:g.7127094A>G | GRCh37 |
| NC_000017.9:g.7067818A>G | NCBI36 |
| NG_007975.1:g.8942A>G | |
| NG_008391.2:g.1276T>C | |
| NG_033038.1:g.15770T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1270-38A>G MANE Select | ENSP00000349297.5:n.1270-38A>G | |
| ENST00000322910.9:c.*1225-38A>G | ENSP00000325395.5:n.*1225-38A>G | |
| ENST00000350303.9:c.1204-38A>G | ENSP00000344152.5:n.1204-38A>G | |
| ENST00000356839.9:c.1270-38A>G | ENSP00000349297.5:n.1270-38A>G | |
| ENST00000542255.6:c.128-38A>G | ||
| ENST00000543245.6:c.1339-38A>G | ENSP00000438689.2:n.1339-38A>G | |
| ENST00000578579.2:n.441-38A>G | ||
| ENST00000578711.1:n.271A>G | ||
| ENST00000578824.5:n.686-38A>G | ||
| ENST00000579425.5:n.294-38A>G | ||
| ENST00000579546.1:c.107-38A>G | ||
| ENST00000583850.5:n.45-38A>G | ||
| ENST00000583858.5:c.299-38A>G | ||
| ENST00000585203.6:n.478-38A>G | ||
| NM_000018.3:c.1270-38A>G | NP_000009.1:n.1270-38A>G | |
| NM_001033859.2:c.1204-38A>G | NP_001029031.1:n.1204-38A>G | |
| NM_001270447.1:c.1339-38A>G | NP_001257376.1:n.1339-38A>G | |
| NM_001270448.1:c.1042-38A>G | NP_001257377.1:n.1042-38A>G | |
| XM_006721516.2:c.1270-38A>G | XP_006721579.2:n.1270-38A>G | |
| XM_011523829.1:c.1270-38A>G | XP_011522131.1:n.1270-38A>G | |
| XM_011523830.1:c.1270-38A>G | XP_011522132.1:n.1270-38A>G | |
| XR_934021.1:n.1377-38A>G | ||
| XR_934022.1:n.1377-38A>G | ||
| XR_934023.1:n.1377-38A>G | ||
| XM_006721516.3:c.1270-38A>G | XP_006721579.2:n.1270-38A>G | |
| XM_011523829.2:c.1270-38A>G | XP_011522131.1:n.1270-38A>G | |
| XM_011523830.2:c.1270-38A>G | XP_011522132.1:n.1270-38A>G | |
| XM_024450741.1:c.1270-38A>G | XP_024306509.1:n.1270-38A>G | |
| XR_934021.2:n.1329-38A>G | ||
| XR_934022.2:n.1329-38A>G | ||
| XR_934023.2:n.1329-38A>G | ||
| NM_000018.4:c.1270-38A>G MANE Select | NP_000009.1:n.1270-38A>G | |
| NM_001033859.3:c.1204-38A>G | NP_001029031.1:n.1204-38A>G | |
| NM_001270447.2:c.1339-38A>G | NP_001257376.1:n.1339-38A>G | |
| NM_001270448.2:c.1042-38A>G | NP_001257377.1:n.1042-38A>G |