Linked Data
ClinVar Variation Id:
44929
ClinVar RCV Id:
RCV000038065
RCV000238901
RCV000290923
RCV000385269
RCV000588812
RCV000621155
RCV000769233
RCV000852997
RCV001082506
RCV001095253
RCV002496607
dbSNP Id:
rs78652302
ExAC:
6:7582993 A / T
gnomAD v2:
6-7582993-A-T
gnomAD v3:
6-7582760-A-T
gnomAD v4:
6-7582760-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7582760A>T , CM000668.2:g.7582760A>T | GRCh38 |
| NC_000006.11:g.7582993A>T , CM000668.1:g.7582993A>T | GRCh37 |
| NC_000006.10:g.7527992A>T | NCBI36 |
| NG_008803.1:g.46124A>T , LRG_423:g.46124A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.4169A>T | ENSP00000518230.1:p.Glu1390Val | |
| ENST00000379802.8:c.5498A>T MANE Select | ENSP00000369129.3:p.Glu1833Val | |
| ENST00000379802.7:c.5498A>T | ENSP00000369129.3:p.Glu1833Val | |
| ENST00000418664.2:c.3701A>T | ENSP00000396591.2:p.Glu1234Val | |
| NM_001008844.1:c.3701A>T | NP_001008844.1:p.Glu1234Val | |
| NM_004415.2:c.5498A>T , LRG_423t1:c.5498A>T | NP_004406.2:p.Glu1833Val | |
| XM_011514323.1:c.4169A>T | XP_011512625.1:p.Glu1390Val | |
| NM_001008844.2:c.3701A>T | NP_001008844.1:p.Glu1234Val | |
| NM_001319034.1:c.4169A>T | NP_001305963.1:p.Glu1390Val | |
| NM_004415.3:c.5498A>T | NP_004406.2:p.Glu1833Val | |
| NM_004415.4:c.5498A>T MANE Select | NP_004406.2:p.Glu1833Val | |
| NM_001008844.3:c.3701A>T | NP_001008844.1:p.Glu1234Val | |
| NM_001319034.2:c.4169A>T | NP_001305963.1:p.Glu1390Val |