Linked Data
ClinVar Variation Id:
2890516
ClinVar RCV Id:
RCV003720528
dbSNP Id:
rs200796676
ExAC:
17:37883638 G / A
gnomAD v2:
17-37883638-G-A
gnomAD v3:
17-39727385-G-A
gnomAD v4:
17-39727385-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727385G>A , CM000679.2:g.39727385G>A | GRCh38 |
| NC_000017.10:g.37883638G>A , CM000679.1:g.37883638G>A | GRCh37 |
| NC_000017.9:g.35137164G>A | NCBI36 |
| NG_007503.1:g.44246G>A , LRG_724:g.44246G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3250G>A MANE Select | ENSP00000269571.4:p.Asp1084Asn | |
| ENST00000269571.9:c.3250G>A | ENSP00000269571.4:p.Asp1084Asn | |
| ENST00000406381.6:c.3160G>A | ENSP00000385185.2:p.Asp1054Asn | |
| ENST00000445658.6:c.2422G>A | ENSP00000404047.2:p.Asp808Asn | |
| ENST00000541774.5:c.3205G>A | ENSP00000446466.1:p.Asp1069Asn | |
| ENST00000578373.5:c.*3040G>A | ENSP00000463427.1:n.*3040G>A | |
| ENST00000584450.5:c.3160-304G>A | ENSP00000463714.1:n.3160-304G>A | |
| ENST00000584601.5:c.3160G>A | ENSP00000462438.1:p.Asp1054Asn | |
| NM_001005862.2:c.3160G>A , LRG_724t1:c.3160G>A | NP_001005862.1:p.Asp1054Asn | |
| NM_001289936.1:c.3205G>A , LRG_724t4:c.3205G>A | NP_001276865.1:p.Asp1069Asn | |
| NM_001289937.1:c.3160-304G>A | NP_001276866.1:n.3160-304G>A | |
| NM_004448.3:c.3250G>A , LRG_724t2:c.3250G>A | NP_004439.2:p.Asp1084Asn | |
| NR_110535.1:n.3574G>A | ||
| XM_024450641.1:c.3388G>A | XP_024306409.1:p.Asp1130Asn | |
| XM_024450642.1:c.3343G>A | XP_024306410.1:p.Asp1115Asn | |
| XM_024450643.1:c.3298G>A | XP_024306411.1:p.Asp1100Asn | |
| NM_001005862.3:c.3160G>A | NP_001005862.1:p.Asp1054Asn | |
| NM_001289936.2:c.3205G>A | NP_001276865.1:p.Asp1069Asn | |
| NM_001289937.2:c.3160-304G>A | NP_001276866.1:n.3160-304G>A | |
| NM_001382782.1:c.3160G>A | NP_001369711.1:p.Asp1054Asn | |
| NM_001382783.1:c.3160G>A | NP_001369712.1:p.Asp1054Asn | |
| NM_001382784.1:c.3367G>A | NP_001369713.1:p.Asp1123Asn | |
| NM_001382785.1:c.3352G>A | NP_001369714.1:p.Asp1118Asn | |
| NM_001382786.1:c.3331G>A | NP_001369715.1:p.Asp1111Asn | |
| NM_001382787.1:c.3325G>A | NP_001369716.1:p.Asp1109Asn | |
| NM_001382788.1:c.3280G>A | NP_001369717.1:p.Asp1094Asn | |
| NM_001382789.1:c.3271G>A | NP_001369718.1:p.Asp1091Asn | |
| NM_001382790.1:c.3247G>A | NP_001369719.1:p.Asp1083Asn | |
| NM_001382791.1:c.3241G>A | NP_001369720.1:p.Asp1081Asn | |
| NM_001382792.1:c.3214G>A | NP_001369721.1:p.Asp1072Asn | |
| NM_001382793.1:c.3208G>A | NP_001369722.1:p.Asp1070Asn | |
| NM_001382794.1:c.3208G>A | NP_001369723.1:p.Asp1070Asn | |
| NM_001382795.1:c.3202G>A | NP_001369724.1:p.Asp1068Asn | |
| NM_001382796.1:c.3163G>A | NP_001369725.1:p.Asp1055Asn | |
| NM_001382797.1:c.3151G>A | NP_001369726.1:p.Asp1051Asn | |
| NM_001382798.1:c.3094G>A | NP_001369727.1:p.Asp1032Asn | |
| NM_001382799.1:c.3070G>A | NP_001369728.1:p.Asp1024Asn | |
| NM_001382800.1:c.3064G>A | NP_001369729.1:p.Asp1022Asn | |
| NM_001382801.1:c.3046G>A | NP_001369730.1:p.Asp1016Asn | |
| NM_001382802.1:c.2992G>A | NP_001369731.1:p.Asp998Asn | |
| NM_001382803.1:c.3118-304G>A | NP_001369732.1:n.3118-304G>A | |
| NM_001382804.1:c.2422G>A | NP_001369733.1:p.Asp808Asn | |
| NM_001382805.1:c.2299G>A | NP_001369734.1:p.Asp767Asn | |
| NM_001382806.1:c.2212G>A | NP_001369735.1:p.Asp738Asn | |
| NM_004448.4:c.3250G>A MANE Select | NP_004439.2:p.Asp1084Asn | |
| NR_110535.2:n.3488G>A |