Linked Data
ClinVar Variation Id:
641678
ClinVar RCV Id:
RCV000794972
dbSNP Id:
rs768041919
ExAC:
17:7125405 C / T
gnomAD v2:
17-7125405-C-T
gnomAD v3:
17-7222086-C-T
gnomAD v4:
17-7222086-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222086C>T , CM000679.2:g.7222086C>T | GRCh38 |
| NC_000017.10:g.7125405C>T , CM000679.1:g.7125405C>T | GRCh37 |
| NC_000017.9:g.7066129C>T | NCBI36 |
| NG_007975.1:g.7253C>T | |
| NG_008391.2:g.2965G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.752+5C>T MANE Select | ENSP00000349297.5:n.752+5C>T | |
| ENST00000322910.9:c.*707+5C>T | ENSP00000325395.5:n.*707+5C>T | |
| ENST00000350303.9:c.686+5C>T | ENSP00000344152.5:n.686+5C>T | |
| ENST00000356839.9:c.752+5C>T | ENSP00000349297.5:n.752+5C>T | |
| ENST00000543245.6:c.821+5C>T | ENSP00000438689.2:n.821+5C>T | |
| ENST00000577191.5:n.834C>T | ||
| ENST00000580365.1:n.488C>T | ||
| ENST00000581378.5:c.470+5C>T | ||
| ENST00000582379.1:n.136+5C>T | ||
| ENST00000583760.1:n.539C>T | ||
| NM_000018.3:c.752+5C>T | NP_000009.1:n.752+5C>T | |
| NM_001033859.2:c.686+5C>T | NP_001029031.1:n.686+5C>T | |
| NM_001270447.1:c.821+5C>T | NP_001257376.1:n.821+5C>T | |
| NM_001270448.1:c.524+5C>T | NP_001257377.1:n.524+5C>T | |
| XM_006721516.2:c.752+5C>T | XP_006721579.2:n.752+5C>T | |
| XM_011523829.1:c.752+5C>T | XP_011522131.1:n.752+5C>T | |
| XM_011523830.1:c.752+5C>T | XP_011522132.1:n.752+5C>T | |
| XR_934021.1:n.859+5C>T | ||
| XR_934022.1:n.859+5C>T | ||
| XR_934023.1:n.859+5C>T | ||
| XM_006721516.3:c.752+5C>T | XP_006721579.2:n.752+5C>T | |
| XM_011523829.2:c.752+5C>T | XP_011522131.1:n.752+5C>T | |
| XM_011523830.2:c.752+5C>T | XP_011522132.1:n.752+5C>T | |
| XM_024450741.1:c.752+5C>T | XP_024306509.1:n.752+5C>T | |
| XR_934021.2:n.811+5C>T | ||
| XR_934022.2:n.811+5C>T | ||
| XR_934023.2:n.811+5C>T | ||
| NM_000018.4:c.752+5C>T MANE Select | NP_000009.1:n.752+5C>T | |
| NM_001033859.3:c.686+5C>T | NP_001029031.1:n.686+5C>T | |
| NM_001270447.2:c.821+5C>T | NP_001257376.1:n.821+5C>T | |
| NM_001270448.2:c.524+5C>T | NP_001257377.1:n.524+5C>T |