Linked Data
ClinVar Variation Id:
954300
ClinVar RCV Id:
RCV001226738
dbSNP Id:
rs1759513408
gnomAD v4:
6-7583308-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7583308G>A , CM000668.2:g.7583308G>A | GRCh38 |
| NC_000006.11:g.7583541G>A , CM000668.1:g.7583541G>A | GRCh37 |
| NC_000006.10:g.7528540G>A | NCBI36 |
| NG_008803.1:g.46672G>A , LRG_423:g.46672G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.4717G>A | ENSP00000518230.1:p.Gly1573Arg | |
| ENST00000379802.8:c.6046G>A MANE Select | ENSP00000369129.3:p.Gly2016Arg | |
| ENST00000379802.7:c.6046G>A | ENSP00000369129.3:p.Gly2016Arg | |
| ENST00000418664.2:c.4249G>A | ENSP00000396591.2:p.Gly1417Arg | |
| NM_001008844.1:c.4249G>A | NP_001008844.1:p.Gly1417Arg | |
| NM_004415.2:c.6046G>A , LRG_423t1:c.6046G>A | NP_004406.2:p.Gly2016Arg | |
| XM_011514323.1:c.4717G>A | XP_011512625.1:p.Gly1573Arg | |
| NM_001008844.2:c.4249G>A | NP_001008844.1:p.Gly1417Arg | |
| NM_001319034.1:c.4717G>A | NP_001305963.1:p.Gly1573Arg | |
| NM_004415.3:c.6046G>A | NP_004406.2:p.Gly2016Arg | |
| NM_004415.4:c.6046G>A MANE Select | NP_004406.2:p.Gly2016Arg | |
| NM_001008844.3:c.4249G>A | NP_001008844.1:p.Gly1417Arg | |
| NM_001319034.2:c.4717G>A | NP_001305963.1:p.Gly1573Arg |