Linked Data
ClinVar Variation Id:
2112458
ClinVar RCV Id:
RCV003034572
dbSNP Id:
rs760914493
ExAC:
17:7124853 C / T
gnomAD v2:
17-7124853-C-T
gnomAD v4:
17-7221534-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221534C>T , CM000679.2:g.7221534C>T | GRCh38 |
| NC_000017.10:g.7124853C>T , CM000679.1:g.7124853C>T | GRCh37 |
| NC_000017.9:g.7065577C>T | NCBI36 |
| NG_007975.1:g.6701C>T | |
| NG_008391.2:g.3517G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.478-4C>T MANE Select | ENSP00000349297.5:n.478-4C>T | |
| ENST00000322910.9:c.*433-4C>T | ENSP00000325395.5:n.*433-4C>T | |
| ENST00000350303.9:c.412-4C>T | ENSP00000344152.5:n.412-4C>T | |
| ENST00000356839.9:c.478-4C>T | ENSP00000349297.5:n.478-4C>T | |
| ENST00000543245.6:c.547-4C>T | ENSP00000438689.2:n.547-4C>T | |
| ENST00000577191.5:n.555-4C>T | ||
| ENST00000577433.5:n.686-4C>T | ||
| ENST00000577857.5:n.294-4C>T | ||
| ENST00000579286.5:n.659-4C>T | ||
| ENST00000579886.2:c.316-4C>T | ENSP00000463246.1:n.316-4C>T | |
| ENST00000580365.1:n.209-4C>T | ||
| ENST00000581378.5:c.192C>T | ||
| ENST00000581562.5:n.525-418C>T | ||
| ENST00000582166.1:n.459-4C>T | ||
| ENST00000583312.5:c.478-4C>T | ENSP00000467920.1:n.478-4C>T | |
| ENST00000583760.1:n.256C>T | ||
| NM_000018.3:c.478-4C>T | NP_000009.1:n.478-4C>T | |
| NM_001033859.2:c.412-4C>T | NP_001029031.1:n.412-4C>T | |
| NM_001270447.1:c.547-4C>T | NP_001257376.1:n.547-4C>T | |
| NM_001270448.1:c.250-4C>T | NP_001257377.1:n.250-4C>T | |
| XM_006721516.2:c.478-4C>T | XP_006721579.2:n.478-4C>T | |
| XM_011523829.1:c.478-4C>T | XP_011522131.1:n.478-4C>T | |
| XM_011523830.1:c.478-4C>T | XP_011522132.1:n.478-4C>T | |
| XR_934021.1:n.585-4C>T | ||
| XR_934022.1:n.585-4C>T | ||
| XR_934023.1:n.585-4C>T | ||
| XM_006721516.3:c.478-4C>T | XP_006721579.2:n.478-4C>T | |
| XM_011523829.2:c.478-4C>T | XP_011522131.1:n.478-4C>T | |
| XM_011523830.2:c.478-4C>T | XP_011522132.1:n.478-4C>T | |
| XM_024450741.1:c.478-4C>T | XP_024306509.1:n.478-4C>T | |
| XR_934021.2:n.537-4C>T | ||
| XR_934022.2:n.537-4C>T | ||
| XR_934023.2:n.537-4C>T | ||
| NM_000018.4:c.478-4C>T MANE Select | NP_000009.1:n.478-4C>T | |
| NM_001033859.3:c.412-4C>T | NP_001029031.1:n.412-4C>T | |
| NM_001270447.2:c.547-4C>T | NP_001257376.1:n.547-4C>T | |
| NM_001270448.2:c.250-4C>T | NP_001257377.1:n.250-4C>T |