Linked Data
ClinVar Variation Id:
48092
ClinVar RCV Id:
RCV000041378
RCV000148604
RCV000619864
RCV000726532
RCV000777745
RCV001086902
RCV001174244
dbSNP Id:
rs150924946
ExAC:
1:156105062 A / G
gnomAD v2:
1-156105062-A-G
gnomAD v3:
1-156135271-A-G
gnomAD v4:
1-156135271-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156135271A>G , CM000663.2:g.156135271A>G | GRCh38 |
| NC_000001.10:g.156105062A>G , CM000663.1:g.156105062A>G | GRCh37 |
| NC_000001.9:g.154371686A>G | NCBI36 |
| NG_008692.2:g.57699A>G , LRG_254:g.57699A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.337A>G | ENSP00000426535.3:p.Ile113Val | |
| ENST00000682650.1:c.895A>G | ENSP00000506904.1:p.Ile299Val | |
| ENST00000683032.1:c.895A>G | ENSP00000506771.1:p.Ile299Val | |
| ENST00000684195.1:c.895A>G | ENSP00000508220.1:p.Ile299Val | |
| ENST00000361308.9:c.895A>G | ENSP00000355292.6:p.Ile299Val | |
| ENST00000368300.9:c.895A>G MANE Select | ENSP00000357283.4:p.Ile299Val | |
| ENST00000496738.6:n.1270A>G | ||
| ENST00000674518.1:c.*245A>G | ENSP00000502261.1:n.*245A>G | |
| ENST00000674600.1:c.*694A>G | ENSP00000501666.1:n.*694A>G | |
| ENST00000674720.1:c.895A>G | ENSP00000502798.1:p.Ile299Val | |
| ENST00000675431.1:n.588A>G | ||
| ENST00000675455.1:c.*695A>G | ENSP00000501795.1:n.*695A>G | |
| ENST00000675667.1:c.895A>G | ENSP00000501803.1:p.Ile299Val | |
| ENST00000675874.1:c.*366A>G | ENSP00000501851.1:n.*366A>G | |
| ENST00000675881.1:c.895A>G | ENSP00000501670.1:p.Ile299Val | |
| ENST00000675939.1:c.895A>G | ENSP00000502256.1:p.Ile299Val | |
| ENST00000675989.1:n.1270A>G | ||
| ENST00000676208.1:c.895A>G | ENSP00000502468.1:p.Ile299Val | |
| ENST00000676283.1:n.1270A>G | ||
| ENST00000676385.2:c.895A>G | ENSP00000502091.1:p.Ile299Val | |
| ENST00000676434.1:c.895A>G | ENSP00000501648.1:p.Ile299Val | |
| ENST00000677389.1:c.895A>G MANE Plus Clinical | ENSP00000503633.1:p.Ile299Val | |
| ENST00000347559.6:c.895A>G | ENSP00000292304.3:p.Ile299Val | |
| ENST00000361308.8:c.895A>G | ENSP00000355292.5:p.Ile299Val | |
| ENST00000368297.5:c.652A>G | ENSP00000357280.1:p.Ile218Val | |
| ENST00000368298.2:n.159A>G | ||
| ENST00000368299.7:c.895A>G | ENSP00000357282.3:p.Ile299Val | |
| ENST00000368300.8:c.895A>G | ENSP00000357283.4:p.Ile299Val | |
| ENST00000368301.6:c.895A>G | ENSP00000357284.2:p.Ile299Val | |
| ENST00000448611.6:c.559A>G | ENSP00000395597.2:p.Ile187Val | |
| ENST00000473598.6:c.598A>G | ENSP00000421821.1:p.Ile200Val | |
| ENST00000496738.5:n.240A>G | ||
| ENST00000515824.1:n.256A>G | ||
| NM_001257374.2:c.559A>G | NP_001244303.1:p.Ile187Val | |
| NM_001282624.1:c.652A>G | NP_001269553.1:p.Ile218Val | |
| NM_001282625.1:c.895A>G | NP_001269554.1:p.Ile299Val | |
| NM_001282626.1:c.895A>G | NP_001269555.1:p.Ile299Val | |
| NM_005572.3:c.895A>G , LRG_254t1:c.895A>G | NP_005563.1:p.Ile299Val | |
| NM_170707.3:c.895A>G | NP_733821.1:p.Ile299Val | |
| NM_170708.3:c.895A>G | NP_733822.1:p.Ile299Val | |
| XM_011509533.1:c.559A>G | XP_011507835.1:p.Ile187Val | |
| XM_011509534.1:c.231A>G | XP_011507836.1:p.Ala77= | |
| XR_921781.1:n.1144A>G | ||
| XM_011509534.2:c.231A>G | XP_011507836.1:p.Ala77= | |
| XR_921781.2:n.1142A>G | ||
| NM_170707.4:c.895A>G MANE Select | NP_733821.1:p.Ile299Val | |
| NM_001257374.3:c.559A>G | NP_001244303.1:p.Ile187Val | |
| NM_001282626.2:c.895A>G | NP_001269555.1:p.Ile299Val | |
| NM_001282624.2:c.652A>G | NP_001269553.1:p.Ile218Val | |
| NM_001282625.2:c.895A>G | NP_001269554.1:p.Ile299Val | |
| NM_005572.4:c.895A>G MANE Plus Clinical | NP_005563.1:p.Ile299Val | |
| NM_170708.4:c.895A>G | NP_733822.1:p.Ile299Val |