Linked Data
ClinVar Variation Id:
357961
ClinVar RCV Id:
RCV000404049
RCV000308156
RCV000777689
RCV000362870
RCV003330653
RCV000463580
RCV002356488
dbSNP Id:
rs557263443
ExAC:
6:7583533 G / A
gnomAD v2:
6-7583533-G-A
gnomAD v3:
6-7583300-G-A
gnomAD v4:
6-7583300-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7583300G>A , CM000668.2:g.7583300G>A | GRCh38 |
| NC_000006.11:g.7583533G>A , CM000668.1:g.7583533G>A | GRCh37 |
| NC_000006.10:g.7528532G>A | NCBI36 |
| NG_008803.1:g.46664G>A , LRG_423:g.46664G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.4709G>A | ENSP00000518230.1:p.Arg1570Gln | |
| ENST00000379802.8:c.6038G>A MANE Select | ENSP00000369129.3:p.Arg2013Gln | |
| ENST00000379802.7:c.6038G>A | ENSP00000369129.3:p.Arg2013Gln | |
| ENST00000418664.2:c.4241G>A | ENSP00000396591.2:p.Arg1414Gln | |
| NM_001008844.1:c.4241G>A | NP_001008844.1:p.Arg1414Gln | |
| NM_004415.2:c.6038G>A , LRG_423t1:c.6038G>A | NP_004406.2:p.Arg2013Gln | |
| XM_011514323.1:c.4709G>A | XP_011512625.1:p.Arg1570Gln | |
| NM_001008844.2:c.4241G>A | NP_001008844.1:p.Arg1414Gln | |
| NM_001319034.1:c.4709G>A | NP_001305963.1:p.Arg1570Gln | |
| NM_004415.3:c.6038G>A | NP_004406.2:p.Arg2013Gln | |
| NM_004415.4:c.6038G>A MANE Select | NP_004406.2:p.Arg2013Gln | |
| NM_001008844.3:c.4241G>A | NP_001008844.1:p.Arg1414Gln | |
| NM_001319034.2:c.4709G>A | NP_001305963.1:p.Arg1570Gln |