Linked Data
ClinVar Variation Id:
2058923
ClinVar RCV Id:
RCV002952533
dbSNP Id:
rs757917133
gnomAD v3:
17-7223807-C-T
gnomAD v4:
17-7223807-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223807C>T , CM000679.2:g.7223807C>T | GRCh38 |
| NC_000017.10:g.7127126C>T , CM000679.1:g.7127126C>T | GRCh37 |
| NC_000017.9:g.7067850C>T | NCBI36 |
| NG_007975.1:g.8974C>T | |
| NG_008391.2:g.1244G>A | |
| NG_033038.1:g.15738G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1270-6C>T MANE Select | ENSP00000349297.5:n.1270-6C>T | |
| ENST00000322910.9:c.*1225-6C>T | ENSP00000325395.5:n.*1225-6C>T | |
| ENST00000350303.9:c.1204-6C>T | ENSP00000344152.5:n.1204-6C>T | |
| ENST00000356839.9:c.1270-6C>T | ENSP00000349297.5:n.1270-6C>T | |
| ENST00000542255.6:c.128-6C>T | ||
| ENST00000543245.6:c.1339-6C>T | ENSP00000438689.2:n.1339-6C>T | |
| ENST00000578579.2:n.441-6C>T | ||
| ENST00000578711.1:n.303C>T | ||
| ENST00000578824.5:n.686-6C>T | ||
| ENST00000579425.5:n.294-6C>T | ||
| ENST00000579546.1:c.107-6C>T | ||
| ENST00000583850.5:n.45-6C>T | ||
| ENST00000583858.5:c.299-6C>T | ||
| ENST00000585203.6:n.478-6C>T | ||
| NM_000018.3:c.1270-6C>T | NP_000009.1:n.1270-6C>T | |
| NM_001033859.2:c.1204-6C>T | NP_001029031.1:n.1204-6C>T | |
| NM_001270447.1:c.1339-6C>T | NP_001257376.1:n.1339-6C>T | |
| NM_001270448.1:c.1042-6C>T | NP_001257377.1:n.1042-6C>T | |
| XM_006721516.2:c.1270-6C>T | XP_006721579.2:n.1270-6C>T | |
| XM_011523829.1:c.1270-6C>T | XP_011522131.1:n.1270-6C>T | |
| XM_011523830.1:c.1270-6C>T | XP_011522132.1:n.1270-6C>T | |
| XR_934021.1:n.1377-6C>T | ||
| XR_934022.1:n.1377-6C>T | ||
| XR_934023.1:n.1377-6C>T | ||
| XM_006721516.3:c.1270-6C>T | XP_006721579.2:n.1270-6C>T | |
| XM_011523829.2:c.1270-6C>T | XP_011522131.1:n.1270-6C>T | |
| XM_011523830.2:c.1270-6C>T | XP_011522132.1:n.1270-6C>T | |
| XM_024450741.1:c.1270-6C>T | XP_024306509.1:n.1270-6C>T | |
| XR_934021.2:n.1329-6C>T | ||
| XR_934022.2:n.1329-6C>T | ||
| XR_934023.2:n.1329-6C>T | ||
| NM_000018.4:c.1270-6C>T MANE Select | NP_000009.1:n.1270-6C>T | |
| NM_001033859.3:c.1204-6C>T | NP_001029031.1:n.1204-6C>T | |
| NM_001270447.2:c.1339-6C>T | NP_001257376.1:n.1339-6C>T | |
| NM_001270448.2:c.1042-6C>T | NP_001257377.1:n.1042-6C>T |