Linked Data
ClinVar Variation Id:
1382653
ClinVar RCV Id:
RCV001922262
dbSNP Id:
rs1383206442
gnomAD v2:
17-37884201-C-G
gnomAD v4:
17-39727948-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727948C>G , CM000679.2:g.39727948C>G | GRCh38 |
| NC_000017.10:g.37884201C>G , CM000679.1:g.37884201C>G | GRCh37 |
| NC_000017.9:g.35137727C>G | NCBI36 |
| NG_007503.1:g.44809C>G , LRG_724:g.44809C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3672C>G MANE Select | ENSP00000269571.4:p.Asp1224Glu | |
| ENST00000269571.9:c.3672C>G | ENSP00000269571.4:p.Asp1224Glu | |
| ENST00000406381.6:c.3582C>G | ENSP00000385185.2:p.Asp1194Glu | |
| ENST00000445658.6:c.2844C>G | ENSP00000404047.2:p.Asp948Glu | |
| ENST00000541774.5:c.3627C>G | ENSP00000446466.1:p.Asp1209Glu | |
| ENST00000578373.5:c.*3462C>G | ENSP00000463427.1:n.*3462C>G | |
| ENST00000584450.5:c.*251C>G | ENSP00000463714.1:n.*251C>G | |
| ENST00000584601.5:c.3582C>G | ENSP00000462438.1:p.Asp1194Glu | |
| NM_001005862.2:c.3582C>G , LRG_724t1:c.3582C>G | NP_001005862.1:p.Asp1194Glu | |
| NM_001289936.1:c.3627C>G , LRG_724t4:c.3627C>G | NP_001276865.1:p.Asp1209Glu | |
| NM_001289937.1:c.*251C>G | NP_001276866.1:n.*251C>G | |
| NM_004448.3:c.3672C>G , LRG_724t2:c.3672C>G | NP_004439.2:p.Asp1224Glu | |
| NR_110535.1:n.3996C>G | ||
| XM_024450641.1:c.3810C>G | XP_024306409.1:p.Asp1270Glu | |
| XM_024450642.1:c.3765C>G | XP_024306410.1:p.Asp1255Glu | |
| XM_024450643.1:c.3720C>G | XP_024306411.1:p.Asp1240Glu | |
| NM_001005862.3:c.3582C>G | NP_001005862.1:p.Asp1194Glu | |
| NM_001289936.2:c.3627C>G | NP_001276865.1:p.Asp1209Glu | |
| NM_001289937.2:c.*251C>G | NP_001276866.1:n.*251C>G | |
| NM_001382782.1:c.3582C>G | NP_001369711.1:p.Asp1194Glu | |
| NM_001382783.1:c.3582C>G | NP_001369712.1:p.Asp1194Glu | |
| NM_001382784.1:c.3789C>G | NP_001369713.1:p.Asp1263Glu | |
| NM_001382785.1:c.3774C>G | NP_001369714.1:p.Asp1258Glu | |
| NM_001382786.1:c.3753C>G | NP_001369715.1:p.Asp1251Glu | |
| NM_001382787.1:c.3747C>G | NP_001369716.1:p.Asp1249Glu | |
| NM_001382788.1:c.3702C>G | NP_001369717.1:p.Asp1234Glu | |
| NM_001382789.1:c.3693C>G | NP_001369718.1:p.Asp1231Glu | |
| NM_001382790.1:c.3669C>G | NP_001369719.1:p.Asp1223Glu | |
| NM_001382791.1:c.3663C>G | NP_001369720.1:p.Asp1221Glu | |
| NM_001382792.1:c.3636C>G | NP_001369721.1:p.Asp1212Glu | |
| NM_001382793.1:c.3630C>G | NP_001369722.1:p.Asp1210Glu | |
| NM_001382794.1:c.3630C>G | NP_001369723.1:p.Asp1210Glu | |
| NM_001382795.1:c.3624C>G | NP_001369724.1:p.Asp1208Glu | |
| NM_001382796.1:c.3585C>G | NP_001369725.1:p.Asp1195Glu | |
| NM_001382797.1:c.3573C>G | NP_001369726.1:p.Asp1191Glu | |
| NM_001382798.1:c.3516C>G | NP_001369727.1:p.Asp1172Glu | |
| NM_001382799.1:c.3492C>G | NP_001369728.1:p.Asp1164Glu | |
| NM_001382800.1:c.3486C>G | NP_001369729.1:p.Asp1162Glu | |
| NM_001382801.1:c.3468C>G | NP_001369730.1:p.Asp1156Glu | |
| NM_001382802.1:c.3414C>G | NP_001369731.1:p.Asp1138Glu | |
| NM_001382803.1:c.*251C>G | NP_001369732.1:n.*251C>G | |
| NM_001382804.1:c.2844C>G | NP_001369733.1:p.Asp948Glu | |
| NM_001382805.1:c.2721C>G | NP_001369734.1:p.Asp907Glu | |
| NM_001382806.1:c.2634C>G | NP_001369735.1:p.Asp878Glu | |
| NM_004448.4:c.3672C>G MANE Select | NP_004439.2:p.Asp1224Glu | |
| NR_110535.2:n.3910C>G |