Linked Data
ClinVar Variation Id:
2717071
ClinVar RCV Id:
RCV003499177
dbSNP Id:
rs1296465152
gnomAD v2:
17-7123434-C-T
gnomAD v4:
17-7220115-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220115C>T , CM000679.2:g.7220115C>T | GRCh38 |
| NC_000017.10:g.7123434C>T , CM000679.1:g.7123434C>T | GRCh37 |
| NC_000017.9:g.7064158C>T | NCBI36 |
| NG_007975.1:g.5282C>T | |
| NG_008391.2:g.4936G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.63-7C>T MANE Select | ENSP00000349297.5:n.63-7C>T | |
| ENST00000322910.9:c.*11C>T | ENSP00000325395.5:n.*11C>T | |
| ENST00000350303.9:c.63-7C>T | ENSP00000344152.5:n.63-7C>T | |
| ENST00000356839.9:c.63-7C>T | ENSP00000349297.5:n.63-7C>T | |
| ENST00000543245.6:c.132-7C>T | ENSP00000438689.2:n.132-7C>T | |
| ENST00000577191.5:n.140-7C>T | ||
| ENST00000577857.5:n.153-7C>T | ||
| ENST00000578269.5:n.170-7C>T | ||
| ENST00000578421.1:n.190C>T | ||
| ENST00000579286.5:n.170-7C>T | ||
| ENST00000579886.2:c.63-7C>T | ENSP00000463246.1:n.63-7C>T | |
| ENST00000580263.5:n.153-7C>T | ||
| ENST00000581562.5:n.110-7C>T | ||
| ENST00000582056.5:n.153-7C>T | ||
| ENST00000582356.5:n.188-7C>T | ||
| ENST00000583312.5:c.63-7C>T | ENSP00000467920.1:n.63-7C>T | |
| ENST00000584103.5:c.63-7C>T | ENSP00000465353.1:n.63-7C>T | |
| NM_000018.3:c.63-7C>T | NP_000009.1:n.63-7C>T | |
| NM_001033859.2:c.63-7C>T | NP_001029031.1:n.63-7C>T | |
| NM_001270447.1:c.132-7C>T | NP_001257376.1:n.132-7C>T | |
| NM_001270448.1:c.-173C>T | NP_001257377.1:n.-173C>T | |
| XM_006721516.2:c.63-7C>T | XP_006721579.2:n.63-7C>T | |
| XM_011523829.1:c.63-7C>T | XP_011522131.1:n.63-7C>T | |
| XM_011523830.1:c.63-7C>T | XP_011522132.1:n.63-7C>T | |
| XR_934021.1:n.170-7C>T | ||
| XR_934022.1:n.170-7C>T | ||
| XR_934023.1:n.170-7C>T | ||
| XM_006721516.3:c.63-7C>T | XP_006721579.2:n.63-7C>T | |
| XM_011523829.2:c.63-7C>T | XP_011522131.1:n.63-7C>T | |
| XM_011523830.2:c.63-7C>T | XP_011522132.1:n.63-7C>T | |
| XM_024450741.1:c.63-7C>T | XP_024306509.1:n.63-7C>T | |
| XR_934021.2:n.122-7C>T | ||
| XR_934022.2:n.122-7C>T | ||
| XR_934023.2:n.122-7C>T | ||
| NM_000018.4:c.63-7C>T MANE Select | NP_000009.1:n.63-7C>T | |
| NM_001033859.3:c.63-7C>T | NP_001029031.1:n.63-7C>T | |
| NM_001270447.2:c.132-7C>T | NP_001257376.1:n.132-7C>T | |
| NM_001270448.2:c.-173C>T | NP_001257377.1:n.-173C>T |