Linked Data
ClinVar Variation Id:
1490388
ClinVar RCV Id:
RCV001983714
dbSNP Id:
rs747888253
ExAC:
17:37883770 G / A
gnomAD v2:
17-37883770-G-A
gnomAD v3:
17-39727517-G-A
gnomAD v4:
17-39727517-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727517G>A , CM000679.2:g.39727517G>A | GRCh38 |
| NC_000017.10:g.37883770G>A , CM000679.1:g.37883770G>A | GRCh37 |
| NC_000017.9:g.35137296G>A | NCBI36 |
| NG_007503.1:g.44378G>A , LRG_724:g.44378G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3382G>A MANE Select | ENSP00000269571.4:p.Val1128Ile | |
| ENST00000269571.9:c.3382G>A | ENSP00000269571.4:p.Val1128Ile | |
| ENST00000406381.6:c.3292G>A | ENSP00000385185.2:p.Val1098Ile | |
| ENST00000445658.6:c.2554G>A | ENSP00000404047.2:p.Val852Ile | |
| ENST00000541774.5:c.3337G>A | ENSP00000446466.1:p.Val1113Ile | |
| ENST00000578373.5:c.*3172G>A | ENSP00000463427.1:n.*3172G>A | |
| ENST00000584450.5:c.3160-172G>A | ENSP00000463714.1:n.3160-172G>A | |
| ENST00000584601.5:c.3292G>A | ENSP00000462438.1:p.Val1098Ile | |
| NM_001005862.2:c.3292G>A , LRG_724t1:c.3292G>A | NP_001005862.1:p.Val1098Ile | |
| NM_001289936.1:c.3337G>A , LRG_724t4:c.3337G>A | NP_001276865.1:p.Val1113Ile | |
| NM_001289937.1:c.3160-172G>A | NP_001276866.1:n.3160-172G>A | |
| NM_004448.3:c.3382G>A , LRG_724t2:c.3382G>A | NP_004439.2:p.Val1128Ile | |
| NR_110535.1:n.3706G>A | ||
| XM_024450641.1:c.3520G>A | XP_024306409.1:p.Val1174Ile | |
| XM_024450642.1:c.3475G>A | XP_024306410.1:p.Val1159Ile | |
| XM_024450643.1:c.3430G>A | XP_024306411.1:p.Val1144Ile | |
| NM_001005862.3:c.3292G>A | NP_001005862.1:p.Val1098Ile | |
| NM_001289936.2:c.3337G>A | NP_001276865.1:p.Val1113Ile | |
| NM_001289937.2:c.3160-172G>A | NP_001276866.1:n.3160-172G>A | |
| NM_001382782.1:c.3292G>A | NP_001369711.1:p.Val1098Ile | |
| NM_001382783.1:c.3292G>A | NP_001369712.1:p.Val1098Ile | |
| NM_001382784.1:c.3499G>A | NP_001369713.1:p.Val1167Ile | |
| NM_001382785.1:c.3484G>A | NP_001369714.1:p.Val1162Ile | |
| NM_001382786.1:c.3463G>A | NP_001369715.1:p.Val1155Ile | |
| NM_001382787.1:c.3457G>A | NP_001369716.1:p.Val1153Ile | |
| NM_001382788.1:c.3412G>A | NP_001369717.1:p.Val1138Ile | |
| NM_001382789.1:c.3403G>A | NP_001369718.1:p.Val1135Ile | |
| NM_001382790.1:c.3379G>A | NP_001369719.1:p.Val1127Ile | |
| NM_001382791.1:c.3373G>A | NP_001369720.1:p.Val1125Ile | |
| NM_001382792.1:c.3346G>A | NP_001369721.1:p.Val1116Ile | |
| NM_001382793.1:c.3340G>A | NP_001369722.1:p.Val1114Ile | |
| NM_001382794.1:c.3340G>A | NP_001369723.1:p.Val1114Ile | |
| NM_001382795.1:c.3334G>A | NP_001369724.1:p.Val1112Ile | |
| NM_001382796.1:c.3295G>A | NP_001369725.1:p.Val1099Ile | |
| NM_001382797.1:c.3283G>A | NP_001369726.1:p.Val1095Ile | |
| NM_001382798.1:c.3226G>A | NP_001369727.1:p.Val1076Ile | |
| NM_001382799.1:c.3202G>A | NP_001369728.1:p.Val1068Ile | |
| NM_001382800.1:c.3196G>A | NP_001369729.1:p.Val1066Ile | |
| NM_001382801.1:c.3178G>A | NP_001369730.1:p.Val1060Ile | |
| NM_001382802.1:c.3124G>A | NP_001369731.1:p.Val1042Ile | |
| NM_001382803.1:c.3118-172G>A | NP_001369732.1:n.3118-172G>A | |
| NM_001382804.1:c.2554G>A | NP_001369733.1:p.Val852Ile | |
| NM_001382805.1:c.2431G>A | NP_001369734.1:p.Val811Ile | |
| NM_001382806.1:c.2344G>A | NP_001369735.1:p.Val782Ile | |
| NM_004448.4:c.3382G>A MANE Select | NP_004439.2:p.Val1128Ile | |
| NR_110535.2:n.3620G>A |