Linked Data
ClinVar Variation Id:
2153297
ClinVar RCV Id:
RCV003077538
dbSNP Id:
rs1841311861
gnomAD v3:
10-71793280-A-G
gnomAD v4:
10-71793280-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71793280A>G , CM000672.2:g.71793280A>G | GRCh38 |
| NC_000010.10:g.73553037A>G , CM000672.1:g.73553037A>G | GRCh37 |
| NC_000010.9:g.73223043A>G | NCBI36 |
| NG_008835.1:g.401334A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.6352A>G MANE Select | ENSP00000224721.9:p.Ile2118Val | |
| ENST00000224721.10:c.6367A>G | ENSP00000224721.8:p.Ile2123Val | |
| ENST00000622827.4:c.6352A>G | ENSP00000483211.1:p.Ile2118Val | |
| NM_022124.5:c.6352A>G | NP_071407.4:p.Ile2118Val | |
| XM_006717940.2:c.6547A>G | XP_006718003.1:p.Ile2183Val | |
| XM_006717942.2:c.6481A>G | XP_006718005.1:p.Ile2161Val | |
| XM_011540039.1:c.6544A>G | XP_011538341.1:p.Ile2182Val | |
| XM_011540040.1:c.6541A>G | XP_011538342.1:p.Ile2181Val | |
| XM_011540041.1:c.6487A>G | XP_011538343.1:p.Ile2163Val | |
| XM_011540042.1:c.6547A>G | XP_011538344.1:p.Ile2183Val | |
| XM_011540043.1:c.6547A>G | XP_011538345.1:p.Ile2183Val | |
| XM_011540044.1:c.6412A>G | XP_011538346.1:p.Ile2138Val | |
| XM_011540045.1:c.6547A>G | XP_011538347.1:p.Ile2183Val | |
| XM_011540046.1:c.6007A>G | XP_011538348.1:p.Ile2003Val | |
| XM_011540047.1:c.5365A>G | XP_011538349.1:p.Ile1789Val | |
| XM_011540048.1:c.6547A>G | XP_011538350.1:p.Ile2183Val | |
| XM_011540049.1:c.6547A>G | XP_011538351.1:p.Ile2183Val | |
| XM_011540050.1:c.6547A>G | XP_011538352.1:p.Ile2183Val | |
| XM_011540051.1:c.6547A>G | XP_011538353.1:p.Ile2183Val | |
| XM_011540052.1:c.2875A>G | XP_011538354.1:p.Ile959Val | |
| XR_945796.1:n.6790A>G | ||
| NM_022124.6:c.6352A>G MANE Select | NP_071407.4:p.Ile2118Val |