Linked Data
ClinVar Variation Id:
137173
ClinVar RCV Id:
RCV000202956
RCV000172750
RCV000400542
RCV000342233
RCV001080914
RCV001095160
RCV000247844
RCV001812025
RCV002492463
RCV000770253
RCV000853001
dbSNP Id:
rs28763971
ExAC:
6:7586100 A / G
gnomAD v2:
6-7586100-A-G
gnomAD v3:
6-7585867-A-G
gnomAD v4:
6-7585867-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7585867A>G , CM000668.2:g.7585867A>G | GRCh38 |
| NC_000006.11:g.7586100A>G , CM000668.1:g.7586100A>G | GRCh37 |
| NC_000006.10:g.7531099A>G | NCBI36 |
| NG_008803.1:g.49231A>G , LRG_423:g.49231A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.7276A>G | ENSP00000518230.1:p.Ile2426Val | |
| ENST00000379802.8:c.8605A>G MANE Select | ENSP00000369129.3:p.Ile2869Val | |
| ENST00000379802.7:c.8605A>G | ENSP00000369129.3:p.Ile2869Val | |
| ENST00000418664.2:c.6808A>G | ENSP00000396591.2:p.Ile2270Val | |
| NM_001008844.1:c.6808A>G | NP_001008844.1:p.Ile2270Val | |
| NM_004415.2:c.8605A>G , LRG_423t1:c.8605A>G | NP_004406.2:p.Ile2869Val | |
| XM_011514323.1:c.7276A>G | XP_011512625.1:p.Ile2426Val | |
| NM_001008844.2:c.6808A>G | NP_001008844.1:p.Ile2270Val | |
| NM_001319034.1:c.7276A>G | NP_001305963.1:p.Ile2426Val | |
| NM_004415.3:c.8605A>G | NP_004406.2:p.Ile2869Val | |
| NM_004415.4:c.8605A>G MANE Select | NP_004406.2:p.Ile2869Val | |
| NM_001008844.3:c.6808A>G | NP_001008844.1:p.Ile2270Val | |
| NM_001319034.2:c.7276A>G | NP_001305963.1:p.Ile2426Val |