Linked Data
ClinVar Variation Id:
923585
ClinVar RCV Id:
RCV001184404
dbSNP Id:
rs764359340
ExAC:
6:7585044 G / T
gnomAD v2:
6-7585044-G-T
gnomAD v3:
6-7584811-G-T
gnomAD v4:
6-7584811-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7584811G>T , CM000668.2:g.7584811G>T | GRCh38 |
| NC_000006.11:g.7585044G>T , CM000668.1:g.7585044G>T | GRCh37 |
| NC_000006.10:g.7530043G>T | NCBI36 |
| NG_008803.1:g.48175G>T , LRG_423:g.48175G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.6220G>T | ENSP00000518230.1:p.Val2074Leu | |
| ENST00000379802.8:c.7549G>T MANE Select | ENSP00000369129.3:p.Val2517Leu | |
| ENST00000379802.7:c.7549G>T | ENSP00000369129.3:p.Val2517Leu | |
| ENST00000418664.2:c.5752G>T | ENSP00000396591.2:p.Val1918Leu | |
| NM_001008844.1:c.5752G>T | NP_001008844.1:p.Val1918Leu | |
| NM_004415.2:c.7549G>T , LRG_423t1:c.7549G>T | NP_004406.2:p.Val2517Leu | |
| XM_011514323.1:c.6220G>T | XP_011512625.1:p.Val2074Leu | |
| NM_001008844.2:c.5752G>T | NP_001008844.1:p.Val1918Leu | |
| NM_001319034.1:c.6220G>T | NP_001305963.1:p.Val2074Leu | |
| NM_004415.3:c.7549G>T | NP_004406.2:p.Val2517Leu | |
| NM_004415.4:c.7549G>T MANE Select | NP_004406.2:p.Val2517Leu | |
| NM_001008844.3:c.5752G>T | NP_001008844.1:p.Val1918Leu | |
| NM_001319034.2:c.6220G>T | NP_001305963.1:p.Val2074Leu |