Linked Data
ClinVar Variation Id:
254702
dbSNP Id:
rs770961747
ExAC:
17:7124931 C / T
gnomAD v2:
17-7124931-C-T
gnomAD v3:
17-7221612-C-T
gnomAD v4:
17-7221612-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221612C>T , CM000679.2:g.7221612C>T | GRCh38 |
| NC_000017.10:g.7124931C>T , CM000679.1:g.7124931C>T | GRCh37 |
| NC_000017.9:g.7065655C>T | NCBI36 |
| NG_007975.1:g.6779C>T | |
| NG_008391.2:g.3439G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.552C>T MANE Select | ENSP00000349297.5:p.Ile184= | |
| ENST00000322910.9:c.*507C>T | ENSP00000325395.5:n.*507C>T | |
| ENST00000350303.9:c.486C>T | ENSP00000344152.5:p.Ile162= | |
| ENST00000356839.9:c.552C>T | ENSP00000349297.5:p.Ile184= | |
| ENST00000543245.6:c.621C>T | ENSP00000438689.2:p.Ile207= | |
| ENST00000577191.5:n.629C>T | ||
| ENST00000577433.5:n.760C>T | ||
| ENST00000577857.5:n.368C>T | ||
| ENST00000579286.5:n.733C>T | ||
| ENST00000579886.2:c.390C>T | ENSP00000463246.1:p.Ile130= | |
| ENST00000580365.1:n.283C>T | ||
| ENST00000581378.5:c.270C>T | ||
| ENST00000581562.5:n.525-340C>T | ||
| ENST00000582166.1:n.533C>T | ||
| ENST00000583312.5:c.552C>T | ENSP00000467920.1:p.Ile184= | |
| ENST00000583760.1:n.334C>T | ||
| NM_000018.3:c.552C>T | NP_000009.1:p.Ile184= | |
| NM_001033859.2:c.486C>T | NP_001029031.1:p.Ile162= | |
| NM_001270447.1:c.621C>T | NP_001257376.1:p.Ile207= | |
| NM_001270448.1:c.324C>T | NP_001257377.1:p.Ile108= | |
| XM_006721516.2:c.552C>T | XP_006721579.2:p.Ile184= | |
| XM_011523829.1:c.552C>T | XP_011522131.1:p.Ile184= | |
| XM_011523830.1:c.552C>T | XP_011522132.1:p.Ile184= | |
| XR_934021.1:n.659C>T | ||
| XR_934022.1:n.659C>T | ||
| XR_934023.1:n.659C>T | ||
| XM_006721516.3:c.552C>T | XP_006721579.2:p.Ile184= | |
| XM_011523829.2:c.552C>T | XP_011522131.1:p.Ile184= | |
| XM_011523830.2:c.552C>T | XP_011522132.1:p.Ile184= | |
| XM_024450741.1:c.552C>T | XP_024306509.1:p.Ile184= | |
| XR_934021.2:n.611C>T | ||
| XR_934022.2:n.611C>T | ||
| XR_934023.2:n.611C>T | ||
| NM_000018.4:c.552C>T MANE Select | NP_000009.1:p.Ile184= | |
| NM_001033859.3:c.486C>T | NP_001029031.1:p.Ile162= | |
| NM_001270447.2:c.621C>T | NP_001257376.1:p.Ile207= | |
| NM_001270448.2:c.324C>T | NP_001257377.1:p.Ile108= |