Linked Data
ClinVar Variation Id:
1046330
dbSNP Id:
rs370983524
ExAC:
1:979383 G / T
gnomAD v2:
1-979383-G-T
gnomAD v3:
1-1044003-G-T
gnomAD v4:
1-1044003-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1044003G>T , CM000663.2:g.1044003G>T | GRCh38 |
| NC_000001.10:g.979383G>T , CM000663.1:g.979383G>T | GRCh37 |
| NC_000001.9:g.969246G>T | NCBI36 |
| NG_016346.1:g.28881G>T , LRG_198:g.28881G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.1979G>T MANE Select | ENSP00000368678.2:p.Arg660Leu | |
| ENST00000651234.1:c.1664G>T | ENSP00000499046.1:p.Arg555Leu | |
| ENST00000652369.1:c.1664G>T | ENSP00000498543.1:p.Arg555Leu | |
| ENST00000379370.6:c.1979G>T | ENSP00000368678.2:p.Arg660Leu | |
| ENST00000620552.4:c.1565G>T | ENSP00000484607.1:p.Arg522Leu | |
| NM_001305275.1:c.1979G>T | NP_001292204.1:p.Arg660Leu | |
| NM_198576.3:c.1979G>T | NP_940978.2:p.Arg660Leu | |
| XM_005244749.2:c.1979G>T | XP_005244806.1:p.Arg660Leu | |
| XM_006710635.2:c.1979G>T | XP_006710698.1:p.Arg660Leu | |
| XM_011541429.1:c.1979G>T | XP_011539731.1:p.Arg660Leu | |
| XM_011541430.1:c.1106G>T | XP_011539732.1:p.Arg369Leu | |
| XM_011541431.1:c.245G>T | XP_011539733.1:p.Arg82Leu | |
| XR_946650.1:n.2046G>T | ||
| NM_001364727.1:c.1664G>T | NP_001351656.1:p.Arg555Leu | |
| XM_005244749.3:c.1979G>T | XP_005244806.1:p.Arg660Leu | |
| XM_011541429.2:c.1979G>T | XP_011539731.1:p.Arg660Leu | |
| XR_946650.2:n.2050G>T | ||
| NM_001305275.2:c.1979G>T | NP_001292204.1:p.Arg660Leu | |
| NM_198576.4:c.1979G>T MANE Select | NP_940978.2:p.Arg660Leu | |
| NM_001364727.2:c.1664G>T | NP_001351656.1:p.Arg555Leu |