Linked Data
ClinVar Variation Id:
990288
ClinVar RCV Id:
RCV001278276
dbSNP Id:
rs1453941490
gnomAD v2:
10-73553007-A-G
gnomAD v4:
10-71793250-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71793250A>G , CM000672.2:g.71793250A>G | GRCh38 |
| NC_000010.10:g.73553007A>G , CM000672.1:g.73553007A>G | GRCh37 |
| NC_000010.9:g.73223013A>G | NCBI36 |
| NG_008835.1:g.401304A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224721.12:c.6322A>G MANE Select | ENSP00000224721.9:p.Ile2108Val | |
| ENST00000224721.10:c.6337A>G | ENSP00000224721.8:p.Ile2113Val | |
| ENST00000622827.4:c.6322A>G | ENSP00000483211.1:p.Ile2108Val | |
| NM_022124.5:c.6322A>G | NP_071407.4:p.Ile2108Val | |
| XM_006717940.2:c.6517A>G | XP_006718003.1:p.Ile2173Val | |
| XM_006717942.2:c.6451A>G | XP_006718005.1:p.Ile2151Val | |
| XM_011540039.1:c.6514A>G | XP_011538341.1:p.Ile2172Val | |
| XM_011540040.1:c.6511A>G | XP_011538342.1:p.Ile2171Val | |
| XM_011540041.1:c.6457A>G | XP_011538343.1:p.Ile2153Val | |
| XM_011540042.1:c.6517A>G | XP_011538344.1:p.Ile2173Val | |
| XM_011540043.1:c.6517A>G | XP_011538345.1:p.Ile2173Val | |
| XM_011540044.1:c.6382A>G | XP_011538346.1:p.Ile2128Val | |
| XM_011540045.1:c.6517A>G | XP_011538347.1:p.Ile2173Val | |
| XM_011540046.1:c.5977A>G | XP_011538348.1:p.Ile1993Val | |
| XM_011540047.1:c.5335A>G | XP_011538349.1:p.Ile1779Val | |
| XM_011540048.1:c.6517A>G | XP_011538350.1:p.Ile2173Val | |
| XM_011540049.1:c.6517A>G | XP_011538351.1:p.Ile2173Val | |
| XM_011540050.1:c.6517A>G | XP_011538352.1:p.Ile2173Val | |
| XM_011540051.1:c.6517A>G | XP_011538353.1:p.Ile2173Val | |
| XM_011540052.1:c.2845A>G | XP_011538354.1:p.Ile949Val | |
| XR_945796.1:n.6760A>G | ||
| NM_022124.6:c.6322A>G MANE Select | NP_071407.4:p.Ile2108Val |