Linked Data
ClinVar Variation Id:
2870367
ClinVar RCV Id:
RCV003703222
dbSNP Id:
rs772604432
gnomAD v4:
17-39727376-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727376G>T , CM000679.2:g.39727376G>T | GRCh38 |
| NC_000017.10:g.37883629G>T , CM000679.1:g.37883629G>T | GRCh37 |
| NC_000017.9:g.35137155G>T | NCBI36 |
| NG_007503.1:g.44237G>T , LRG_724:g.44237G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3241G>T MANE Select | ENSP00000269571.4:p.Ala1081Ser | |
| ENST00000269571.9:c.3241G>T | ENSP00000269571.4:p.Ala1081Ser | |
| ENST00000406381.6:c.3151G>T | ENSP00000385185.2:p.Ala1051Ser | |
| ENST00000445658.6:c.2413G>T | ENSP00000404047.2:p.Ala805Ser | |
| ENST00000541774.5:c.3196G>T | ENSP00000446466.1:p.Ala1066Ser | |
| ENST00000578373.5:c.*3031G>T | ENSP00000463427.1:n.*3031G>T | |
| ENST00000584450.5:c.3160-313G>T | ENSP00000463714.1:n.3160-313G>T | |
| ENST00000584601.5:c.3151G>T | ENSP00000462438.1:p.Ala1051Ser | |
| NM_001005862.2:c.3151G>T , LRG_724t1:c.3151G>T | NP_001005862.1:p.Ala1051Ser | |
| NM_001289936.1:c.3196G>T , LRG_724t4:c.3196G>T | NP_001276865.1:p.Ala1066Ser | |
| NM_001289937.1:c.3160-313G>T | NP_001276866.1:n.3160-313G>T | |
| NM_004448.3:c.3241G>T , LRG_724t2:c.3241G>T | NP_004439.2:p.Ala1081Ser | |
| NR_110535.1:n.3565G>T | ||
| XM_024450641.1:c.3379G>T | XP_024306409.1:p.Ala1127Ser | |
| XM_024450642.1:c.3334G>T | XP_024306410.1:p.Ala1112Ser | |
| XM_024450643.1:c.3289G>T | XP_024306411.1:p.Ala1097Ser | |
| NM_001005862.3:c.3151G>T | NP_001005862.1:p.Ala1051Ser | |
| NM_001289936.2:c.3196G>T | NP_001276865.1:p.Ala1066Ser | |
| NM_001289937.2:c.3160-313G>T | NP_001276866.1:n.3160-313G>T | |
| NM_001382782.1:c.3151G>T | NP_001369711.1:p.Ala1051Ser | |
| NM_001382783.1:c.3151G>T | NP_001369712.1:p.Ala1051Ser | |
| NM_001382784.1:c.3358G>T | NP_001369713.1:p.Ala1120Ser | |
| NM_001382785.1:c.3343G>T | NP_001369714.1:p.Ala1115Ser | |
| NM_001382786.1:c.3322G>T | NP_001369715.1:p.Ala1108Ser | |
| NM_001382787.1:c.3316G>T | NP_001369716.1:p.Ala1106Ser | |
| NM_001382788.1:c.3271G>T | NP_001369717.1:p.Ala1091Ser | |
| NM_001382789.1:c.3262G>T | NP_001369718.1:p.Ala1088Ser | |
| NM_001382790.1:c.3238G>T | NP_001369719.1:p.Ala1080Ser | |
| NM_001382791.1:c.3232G>T | NP_001369720.1:p.Ala1078Ser | |
| NM_001382792.1:c.3205G>T | NP_001369721.1:p.Ala1069Ser | |
| NM_001382793.1:c.3199G>T | NP_001369722.1:p.Ala1067Ser | |
| NM_001382794.1:c.3199G>T | NP_001369723.1:p.Ala1067Ser | |
| NM_001382795.1:c.3193G>T | NP_001369724.1:p.Ala1065Ser | |
| NM_001382796.1:c.3154G>T | NP_001369725.1:p.Ala1052Ser | |
| NM_001382797.1:c.3142G>T | NP_001369726.1:p.Ala1048Ser | |
| NM_001382798.1:c.3085G>T | NP_001369727.1:p.Ala1029Ser | |
| NM_001382799.1:c.3061G>T | NP_001369728.1:p.Ala1021Ser | |
| NM_001382800.1:c.3055G>T | NP_001369729.1:p.Ala1019Ser | |
| NM_001382801.1:c.3037G>T | NP_001369730.1:p.Ala1013Ser | |
| NM_001382802.1:c.2983G>T | NP_001369731.1:p.Ala995Ser | |
| NM_001382803.1:c.3118-313G>T | NP_001369732.1:n.3118-313G>T | |
| NM_001382804.1:c.2413G>T | NP_001369733.1:p.Ala805Ser | |
| NM_001382805.1:c.2290G>T | NP_001369734.1:p.Ala764Ser | |
| NM_001382806.1:c.2203G>T | NP_001369735.1:p.Ala735Ser | |
| NM_004448.4:c.3241G>T MANE Select | NP_004439.2:p.Ala1081Ser | |
| NR_110535.2:n.3479G>T |