Linked Data
ClinVar Variation Id:
2414616
ClinVar RCV Id:
RCV003108451
gnomAD v4:
17-7222694-C-T
MyVariant Identifiers:
chr17:g.7126013C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222694C>T , CM000679.2:g.7222694C>T | GRCh38 |
| NC_000017.10:g.7126013C>T , CM000679.1:g.7126013C>T | GRCh37 |
| NC_000017.9:g.7066737C>T | NCBI36 |
| NG_007975.1:g.7861C>T | |
| NG_008391.2:g.2357G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.906C>T MANE Select | ENSP00000349297.5:p.Ile302= | |
| ENST00000322910.9:c.*861C>T | ENSP00000325395.5:n.*861C>T | |
| ENST00000350303.9:c.840C>T | ENSP00000344152.5:p.Ile280= | |
| ENST00000356839.9:c.906C>T | ENSP00000349297.5:p.Ile302= | |
| ENST00000543245.6:c.975C>T | ENSP00000438689.2:p.Ile325= | |
| ENST00000578824.5:n.55C>T | ||
| ENST00000581378.5:c.624C>T | ||
| ENST00000582379.1:n.290C>T | ||
| NM_000018.3:c.906C>T | NP_000009.1:p.Ile302= | |
| NM_001033859.2:c.840C>T | NP_001029031.1:p.Ile280= | |
| NM_001270447.1:c.975C>T | NP_001257376.1:p.Ile325= | |
| NM_001270448.1:c.678C>T | NP_001257377.1:p.Ile226= | |
| XM_006721516.2:c.906C>T | XP_006721579.2:p.Ile302= | |
| XM_011523829.1:c.906C>T | XP_011522131.1:p.Ile302= | |
| XM_011523830.1:c.906C>T | XP_011522132.1:p.Ile302= | |
| XR_934021.1:n.1013C>T | ||
| XR_934022.1:n.1013C>T | ||
| XR_934023.1:n.1013C>T | ||
| XM_006721516.3:c.906C>T | XP_006721579.2:p.Ile302= | |
| XM_011523829.2:c.906C>T | XP_011522131.1:p.Ile302= | |
| XM_011523830.2:c.906C>T | XP_011522132.1:p.Ile302= | |
| XM_024450741.1:c.906C>T | XP_024306509.1:p.Ile302= | |
| XR_934021.2:n.965C>T | ||
| XR_934022.2:n.965C>T | ||
| XR_934023.2:n.965C>T | ||
| NM_000018.4:c.906C>T MANE Select | NP_000009.1:p.Ile302= | |
| NM_001033859.3:c.840C>T | NP_001029031.1:p.Ile280= | |
| NM_001270447.2:c.975C>T | NP_001257376.1:p.Ile325= | |
| NM_001270448.2:c.678C>T | NP_001257377.1:p.Ile226= |