Linked Data
ClinVar Variation Id:
1166658
ClinVar RCV Id:
RCV001515106
dbSNP Id:
rs150165942
ExAC:
17:37883791 C / T
gnomAD v2:
17-37883791-C-T
gnomAD v3:
17-39727538-C-T
gnomAD v4:
17-39727538-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727538C>T , CM000679.2:g.39727538C>T | GRCh38 |
| NC_000017.10:g.37883791C>T , CM000679.1:g.37883791C>T | GRCh37 |
| NC_000017.9:g.35137317C>T | NCBI36 |
| NG_007503.1:g.44399C>T , LRG_724:g.44399C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3403C>T MANE Select | ENSP00000269571.4:p.Pro1135Ser | |
| ENST00000269571.9:c.3403C>T | ENSP00000269571.4:p.Pro1135Ser | |
| ENST00000406381.6:c.3313C>T | ENSP00000385185.2:p.Pro1105Ser | |
| ENST00000445658.6:c.2575C>T | ENSP00000404047.2:p.Pro859Ser | |
| ENST00000541774.5:c.3358C>T | ENSP00000446466.1:p.Pro1120Ser | |
| ENST00000578373.5:c.*3193C>T | ENSP00000463427.1:n.*3193C>T | |
| ENST00000584450.5:c.3160-151C>T | ENSP00000463714.1:n.3160-151C>T | |
| ENST00000584601.5:c.3313C>T | ENSP00000462438.1:p.Pro1105Ser | |
| NM_001005862.2:c.3313C>T , LRG_724t1:c.3313C>T | NP_001005862.1:p.Pro1105Ser | |
| NM_001289936.1:c.3358C>T , LRG_724t4:c.3358C>T | NP_001276865.1:p.Pro1120Ser | |
| NM_001289937.1:c.3160-151C>T | NP_001276866.1:n.3160-151C>T | |
| NM_004448.3:c.3403C>T , LRG_724t2:c.3403C>T | NP_004439.2:p.Pro1135Ser | |
| NR_110535.1:n.3727C>T | ||
| XM_024450641.1:c.3541C>T | XP_024306409.1:p.Pro1181Ser | |
| XM_024450642.1:c.3496C>T | XP_024306410.1:p.Pro1166Ser | |
| XM_024450643.1:c.3451C>T | XP_024306411.1:p.Pro1151Ser | |
| NM_001005862.3:c.3313C>T | NP_001005862.1:p.Pro1105Ser | |
| NM_001289936.2:c.3358C>T | NP_001276865.1:p.Pro1120Ser | |
| NM_001289937.2:c.3160-151C>T | NP_001276866.1:n.3160-151C>T | |
| NM_001382782.1:c.3313C>T | NP_001369711.1:p.Pro1105Ser | |
| NM_001382783.1:c.3313C>T | NP_001369712.1:p.Pro1105Ser | |
| NM_001382784.1:c.3520C>T | NP_001369713.1:p.Pro1174Ser | |
| NM_001382785.1:c.3505C>T | NP_001369714.1:p.Pro1169Ser | |
| NM_001382786.1:c.3484C>T | NP_001369715.1:p.Pro1162Ser | |
| NM_001382787.1:c.3478C>T | NP_001369716.1:p.Pro1160Ser | |
| NM_001382788.1:c.3433C>T | NP_001369717.1:p.Pro1145Ser | |
| NM_001382789.1:c.3424C>T | NP_001369718.1:p.Pro1142Ser | |
| NM_001382790.1:c.3400C>T | NP_001369719.1:p.Pro1134Ser | |
| NM_001382791.1:c.3394C>T | NP_001369720.1:p.Pro1132Ser | |
| NM_001382792.1:c.3367C>T | NP_001369721.1:p.Pro1123Ser | |
| NM_001382793.1:c.3361C>T | NP_001369722.1:p.Pro1121Ser | |
| NM_001382794.1:c.3361C>T | NP_001369723.1:p.Pro1121Ser | |
| NM_001382795.1:c.3355C>T | NP_001369724.1:p.Pro1119Ser | |
| NM_001382796.1:c.3316C>T | NP_001369725.1:p.Pro1106Ser | |
| NM_001382797.1:c.3304C>T | NP_001369726.1:p.Pro1102Ser | |
| NM_001382798.1:c.3247C>T | NP_001369727.1:p.Pro1083Ser | |
| NM_001382799.1:c.3223C>T | NP_001369728.1:p.Pro1075Ser | |
| NM_001382800.1:c.3217C>T | NP_001369729.1:p.Pro1073Ser | |
| NM_001382801.1:c.3199C>T | NP_001369730.1:p.Pro1067Ser | |
| NM_001382802.1:c.3145C>T | NP_001369731.1:p.Pro1049Ser | |
| NM_001382803.1:c.3118-151C>T | NP_001369732.1:n.3118-151C>T | |
| NM_001382804.1:c.2575C>T | NP_001369733.1:p.Pro859Ser | |
| NM_001382805.1:c.2452C>T | NP_001369734.1:p.Pro818Ser | |
| NM_001382806.1:c.2365C>T | NP_001369735.1:p.Pro789Ser | |
| NM_004448.4:c.3403C>T MANE Select | NP_004439.2:p.Pro1135Ser | |
| NR_110535.2:n.3641C>T |