Linked Data
ClinVar Variation Id:
2126122
ClinVar RCV Id:
RCV003049917
dbSNP Id:
rs2071285669
gnomAD v4:
17-7222649-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222649C>T , CM000679.2:g.7222649C>T | GRCh38 |
| NC_000017.10:g.7125968C>T , CM000679.1:g.7125968C>T | GRCh37 |
| NC_000017.9:g.7066692C>T | NCBI36 |
| NG_007975.1:g.7816C>T | |
| NG_008391.2:g.2402G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.879-18C>T MANE Select | ENSP00000349297.5:n.879-18C>T | |
| ENST00000322910.9:c.*834-18C>T | ENSP00000325395.5:n.*834-18C>T | |
| ENST00000350303.9:c.813-18C>T | ENSP00000344152.5:n.813-18C>T | |
| ENST00000356839.9:c.879-18C>T | ENSP00000349297.5:n.879-18C>T | |
| ENST00000543245.6:c.948-18C>T | ENSP00000438689.2:n.948-18C>T | |
| ENST00000578824.5:n.10C>T | ||
| ENST00000581378.5:c.597-18C>T | ||
| ENST00000582379.1:n.263-18C>T | ||
| NM_000018.3:c.879-18C>T | NP_000009.1:n.879-18C>T | |
| NM_001033859.2:c.813-18C>T | NP_001029031.1:n.813-18C>T | |
| NM_001270447.1:c.948-18C>T | NP_001257376.1:n.948-18C>T | |
| NM_001270448.1:c.651-18C>T | NP_001257377.1:n.651-18C>T | |
| XM_006721516.2:c.879-18C>T | XP_006721579.2:n.879-18C>T | |
| XM_011523829.1:c.879-18C>T | XP_011522131.1:n.879-18C>T | |
| XM_011523830.1:c.879-18C>T | XP_011522132.1:n.879-18C>T | |
| XR_934021.1:n.986-18C>T | ||
| XR_934022.1:n.986-18C>T | ||
| XR_934023.1:n.986-18C>T | ||
| XM_006721516.3:c.879-18C>T | XP_006721579.2:n.879-18C>T | |
| XM_011523829.2:c.879-18C>T | XP_011522131.1:n.879-18C>T | |
| XM_011523830.2:c.879-18C>T | XP_011522132.1:n.879-18C>T | |
| XM_024450741.1:c.879-18C>T | XP_024306509.1:n.879-18C>T | |
| XR_934021.2:n.938-18C>T | ||
| XR_934022.2:n.938-18C>T | ||
| XR_934023.2:n.938-18C>T | ||
| NM_000018.4:c.879-18C>T MANE Select | NP_000009.1:n.879-18C>T | |
| NM_001033859.3:c.813-18C>T | NP_001029031.1:n.813-18C>T | |
| NM_001270447.2:c.948-18C>T | NP_001257376.1:n.948-18C>T | |
| NM_001270448.2:c.651-18C>T | NP_001257377.1:n.651-18C>T |