Linked Data
ClinVar Variation Id:
1489870
ClinVar RCV Id:
RCV001983474
dbSNP Id:
rs528146665
ExAC:
1:983209 G / C
gnomAD v2:
1-983209-G-C
gnomAD v3:
1-1047829-G-C
gnomAD v4:
1-1047829-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1047829G>C , CM000663.2:g.1047829G>C | GRCh38 |
| NC_000001.10:g.983209G>C , CM000663.1:g.983209G>C | GRCh37 |
| NC_000001.9:g.973072G>C | NCBI36 |
| NG_016346.1:g.32707G>C , LRG_198:g.32707G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.3685G>C MANE Select | ENSP00000368678.2:p.Val1229Leu | |
| ENST00000651234.1:c.3370G>C | ENSP00000499046.1:p.Val1124Leu | |
| ENST00000652369.1:c.3370G>C | ENSP00000498543.1:p.Val1124Leu | |
| ENST00000379370.6:c.3685G>C | ENSP00000368678.2:p.Val1229Leu | |
| ENST00000466223.1:n.423G>C | ||
| ENST00000478677.1:n.267G>C | ||
| ENST00000620552.4:c.3271G>C | ENSP00000484607.1:p.Val1091Leu | |
| NM_001305275.1:c.3685G>C | NP_001292204.1:p.Val1229Leu | |
| NM_198576.3:c.3685G>C | NP_940978.2:p.Val1229Leu | |
| XM_005244749.2:c.3685G>C | XP_005244806.1:p.Val1229Leu | |
| XM_006710635.2:c.3685G>C | XP_006710698.1:p.Val1229Leu | |
| XM_011541429.1:c.3685G>C | XP_011539731.1:p.Val1229Leu | |
| XM_011541430.1:c.2812G>C | XP_011539732.1:p.Val938Leu | |
| XM_011541431.1:c.1951G>C | XP_011539733.1:p.Val651Leu | |
| XR_946650.1:n.3752G>C | ||
| NM_001364727.1:c.3370G>C | NP_001351656.1:p.Val1124Leu | |
| XM_005244749.3:c.3685G>C | XP_005244806.1:p.Val1229Leu | |
| XM_011541429.2:c.3685G>C | XP_011539731.1:p.Val1229Leu | |
| XR_946650.2:n.3756G>C | ||
| NM_001305275.2:c.3685G>C | NP_001292204.1:p.Val1229Leu | |
| NM_198576.4:c.3685G>C MANE Select | NP_940978.2:p.Val1229Leu | |
| NM_001364727.2:c.3370G>C | NP_001351656.1:p.Val1124Leu |