Linked Data
dbSNP Id:
rs748800582
gnomAD v2:
17-37883621-C-T
gnomAD v3:
17-39727368-C-T
gnomAD v4:
17-39727368-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727368C>T , CM000679.2:g.39727368C>T | GRCh38 |
| NC_000017.10:g.37883621C>T , CM000679.1:g.37883621C>T | GRCh37 |
| NC_000017.9:g.35137147C>T | NCBI36 |
| NG_007503.1:g.44229C>T , LRG_724:g.44229C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3233C>T MANE Select | ENSP00000269571.4:p.Ser1078Phe | |
| ENST00000269571.9:c.3233C>T | ENSP00000269571.4:p.Ser1078Phe | |
| ENST00000406381.6:c.3143C>T | ENSP00000385185.2:p.Ser1048Phe | |
| ENST00000445658.6:c.2405C>T | ENSP00000404047.2:p.Ser802Phe | |
| ENST00000541774.5:c.3188C>T | ENSP00000446466.1:p.Ser1063Phe | |
| ENST00000578373.5:c.*3023C>T | ENSP00000463427.1:n.*3023C>T | |
| ENST00000584450.5:c.3160-321C>T | ENSP00000463714.1:n.3160-321C>T | |
| ENST00000584601.5:c.3143C>T | ENSP00000462438.1:p.Ser1048Phe | |
| NM_001005862.2:c.3143C>T , LRG_724t1:c.3143C>T | NP_001005862.1:p.Ser1048Phe | |
| NM_001289936.1:c.3188C>T , LRG_724t4:c.3188C>T | NP_001276865.1:p.Ser1063Phe | |
| NM_001289937.1:c.3160-321C>T | NP_001276866.1:n.3160-321C>T | |
| NM_004448.3:c.3233C>T , LRG_724t2:c.3233C>T | NP_004439.2:p.Ser1078Phe | |
| NR_110535.1:n.3557C>T | ||
| XM_024450641.1:c.3371C>T | XP_024306409.1:p.Ser1124Phe | |
| XM_024450642.1:c.3326C>T | XP_024306410.1:p.Ser1109Phe | |
| XM_024450643.1:c.3281C>T | XP_024306411.1:p.Ser1094Phe | |
| NM_001005862.3:c.3143C>T | NP_001005862.1:p.Ser1048Phe | |
| NM_001289936.2:c.3188C>T | NP_001276865.1:p.Ser1063Phe | |
| NM_001289937.2:c.3160-321C>T | NP_001276866.1:n.3160-321C>T | |
| NM_001382782.1:c.3143C>T | NP_001369711.1:p.Ser1048Phe | |
| NM_001382783.1:c.3143C>T | NP_001369712.1:p.Ser1048Phe | |
| NM_001382784.1:c.3350C>T | NP_001369713.1:p.Ser1117Phe | |
| NM_001382785.1:c.3335C>T | NP_001369714.1:p.Ser1112Phe | |
| NM_001382786.1:c.3314C>T | NP_001369715.1:p.Ser1105Phe | |
| NM_001382787.1:c.3308C>T | NP_001369716.1:p.Ser1103Phe | |
| NM_001382788.1:c.3263C>T | NP_001369717.1:p.Ser1088Phe | |
| NM_001382789.1:c.3254C>T | NP_001369718.1:p.Ser1085Phe | |
| NM_001382790.1:c.3230C>T | NP_001369719.1:p.Ser1077Phe | |
| NM_001382791.1:c.3224C>T | NP_001369720.1:p.Ser1075Phe | |
| NM_001382792.1:c.3197C>T | NP_001369721.1:p.Ser1066Phe | |
| NM_001382793.1:c.3191C>T | NP_001369722.1:p.Ser1064Phe | |
| NM_001382794.1:c.3191C>T | NP_001369723.1:p.Ser1064Phe | |
| NM_001382795.1:c.3185C>T | NP_001369724.1:p.Ser1062Phe | |
| NM_001382796.1:c.3146C>T | NP_001369725.1:p.Ser1049Phe | |
| NM_001382797.1:c.3134C>T | NP_001369726.1:p.Ser1045Phe | |
| NM_001382798.1:c.3077C>T | NP_001369727.1:p.Ser1026Phe | |
| NM_001382799.1:c.3053C>T | NP_001369728.1:p.Ser1018Phe | |
| NM_001382800.1:c.3047C>T | NP_001369729.1:p.Ser1016Phe | |
| NM_001382801.1:c.3029C>T | NP_001369730.1:p.Ser1010Phe | |
| NM_001382802.1:c.2975C>T | NP_001369731.1:p.Ser992Phe | |
| NM_001382803.1:c.3118-321C>T | NP_001369732.1:n.3118-321C>T | |
| NM_001382804.1:c.2405C>T | NP_001369733.1:p.Ser802Phe | |
| NM_001382805.1:c.2282C>T | NP_001369734.1:p.Ser761Phe | |
| NM_001382806.1:c.2195C>T | NP_001369735.1:p.Ser732Phe | |
| NM_004448.4:c.3233C>T MANE Select | NP_004439.2:p.Ser1078Phe | |
| NR_110535.2:n.3471C>T |