Linked Data
ClinVar Variation Id:
1426985
ClinVar RCV Id:
RCV001933519
dbSNP Id:
rs894284973
gnomAD v2:
17-7124357-G-T
gnomAD v4:
17-7221038-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221038G>T , CM000679.2:g.7221038G>T | GRCh38 |
| NC_000017.10:g.7124357G>T , CM000679.1:g.7124357G>T | GRCh37 |
| NC_000017.9:g.7065081G>T | NCBI36 |
| NG_007975.1:g.6205G>T | |
| NG_008391.2:g.4013C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.457G>T MANE Select | ENSP00000349297.5:p.Val153Leu | |
| ENST00000322910.9:c.*412G>T | ENSP00000325395.5:n.*412G>T | |
| ENST00000350303.9:c.391G>T | ENSP00000344152.5:p.Val131Leu | |
| ENST00000356839.9:c.457G>T | ENSP00000349297.5:p.Val153Leu | |
| ENST00000543245.6:c.526G>T | ENSP00000438689.2:p.Val176Leu | |
| ENST00000577191.5:n.534G>T | ||
| ENST00000577433.5:n.665G>T | ||
| ENST00000577857.5:n.293+208G>T | ||
| ENST00000579286.5:n.638G>T | ||
| ENST00000579886.2:c.295G>T | ENSP00000463246.1:p.Val99Leu | |
| ENST00000580365.1:n.188G>T | ||
| ENST00000581378.5:c.156G>T | ||
| ENST00000581562.5:n.504G>T | ||
| ENST00000582056.5:n.640G>T | ||
| ENST00000582166.1:n.438G>T | ||
| ENST00000583312.5:c.457G>T | ENSP00000467920.1:p.Val153Leu | |
| NM_000018.3:c.457G>T | NP_000009.1:p.Val153Leu | |
| NM_001033859.2:c.391G>T | NP_001029031.1:p.Val131Leu | |
| NM_001270447.1:c.526G>T | NP_001257376.1:p.Val176Leu | |
| NM_001270448.1:c.229G>T | NP_001257377.1:p.Val77Leu | |
| XM_006721516.2:c.457G>T | XP_006721579.2:p.Val153Leu | |
| XM_011523829.1:c.457G>T | XP_011522131.1:p.Val153Leu | |
| XM_011523830.1:c.457G>T | XP_011522132.1:p.Val153Leu | |
| XR_934021.1:n.564G>T | ||
| XR_934022.1:n.564G>T | ||
| XR_934023.1:n.564G>T | ||
| XM_006721516.3:c.457G>T | XP_006721579.2:p.Val153Leu | |
| XM_011523829.2:c.457G>T | XP_011522131.1:p.Val153Leu | |
| XM_011523830.2:c.457G>T | XP_011522132.1:p.Val153Leu | |
| XM_024450741.1:c.457G>T | XP_024306509.1:p.Val153Leu | |
| XR_934021.2:n.516G>T | ||
| XR_934022.2:n.516G>T | ||
| XR_934023.2:n.516G>T | ||
| NM_000018.4:c.457G>T MANE Select | NP_000009.1:p.Val153Leu | |
| NM_001033859.3:c.391G>T | NP_001029031.1:p.Val131Leu | |
| NM_001270447.2:c.526G>T | NP_001257376.1:p.Val176Leu | |
| NM_001270448.2:c.229G>T | NP_001257377.1:p.Val77Leu |