Linked Data
ClinVar Variation Id:
1332329
ClinVar RCV Id:
RCV001805375
dbSNP Id:
rs780766289
ExAC:
6:7586032 G / A
gnomAD v2:
6-7586032-G-A
gnomAD v4:
6-7585799-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7585799G>A , CM000668.2:g.7585799G>A | GRCh38 |
| NC_000006.11:g.7586032G>A , CM000668.1:g.7586032G>A | GRCh37 |
| NC_000006.10:g.7531031G>A | NCBI36 |
| NG_008803.1:g.49163G>A , LRG_423:g.49163G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.7208G>A | ENSP00000518230.1:p.Arg2403Gln | |
| ENST00000379802.8:c.8537G>A MANE Select | ENSP00000369129.3:p.Arg2846Gln | |
| ENST00000379802.7:c.8537G>A | ENSP00000369129.3:p.Arg2846Gln | |
| ENST00000418664.2:c.6740G>A | ENSP00000396591.2:p.Arg2247Gln | |
| NM_001008844.1:c.6740G>A | NP_001008844.1:p.Arg2247Gln | |
| NM_004415.2:c.8537G>A , LRG_423t1:c.8537G>A | NP_004406.2:p.Arg2846Gln | |
| XM_011514323.1:c.7208G>A | XP_011512625.1:p.Arg2403Gln | |
| NM_001008844.2:c.6740G>A | NP_001008844.1:p.Arg2247Gln | |
| NM_001319034.1:c.7208G>A | NP_001305963.1:p.Arg2403Gln | |
| NM_004415.3:c.8537G>A | NP_004406.2:p.Arg2846Gln | |
| NM_004415.4:c.8537G>A MANE Select | NP_004406.2:p.Arg2846Gln | |
| NM_001008844.3:c.6740G>A | NP_001008844.1:p.Arg2247Gln | |
| NM_001319034.2:c.7208G>A | NP_001305963.1:p.Arg2403Gln |