Linked Data
ClinVar Variation Id:
2966293
ClinVar RCV Id:
RCV003820907
dbSNP Id:
rs751372943
ExAC:
17:37883992 G / T
gnomAD v2:
17-37883992-G-T
gnomAD v4:
17-39727739-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727739G>T , CM000679.2:g.39727739G>T | GRCh38 |
| NC_000017.10:g.37883992G>T , CM000679.1:g.37883992G>T | GRCh37 |
| NC_000017.9:g.35137518G>T | NCBI36 |
| NG_007503.1:g.44600G>T , LRG_724:g.44600G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3463G>T MANE Select | ENSP00000269571.4:p.Gly1155Cys | |
| ENST00000269571.9:c.3463G>T | ENSP00000269571.4:p.Gly1155Cys | |
| ENST00000406381.6:c.3373G>T | ENSP00000385185.2:p.Gly1125Cys | |
| ENST00000445658.6:c.2635G>T | ENSP00000404047.2:p.Gly879Cys | |
| ENST00000541774.5:c.3418G>T | ENSP00000446466.1:p.Gly1140Cys | |
| ENST00000578373.5:c.*3253G>T | ENSP00000463427.1:n.*3253G>T | |
| ENST00000584450.5:c.*42G>T | ENSP00000463714.1:n.*42G>T | |
| ENST00000584601.5:c.3373G>T | ENSP00000462438.1:p.Gly1125Cys | |
| NM_001005862.2:c.3373G>T , LRG_724t1:c.3373G>T | NP_001005862.1:p.Gly1125Cys | |
| NM_001289936.1:c.3418G>T , LRG_724t4:c.3418G>T | NP_001276865.1:p.Gly1140Cys | |
| NM_001289937.1:c.*42G>T | NP_001276866.1:n.*42G>T | |
| NM_004448.3:c.3463G>T , LRG_724t2:c.3463G>T | NP_004439.2:p.Gly1155Cys | |
| NR_110535.1:n.3787G>T | ||
| XM_024450641.1:c.3601G>T | XP_024306409.1:p.Gly1201Cys | |
| XM_024450642.1:c.3556G>T | XP_024306410.1:p.Gly1186Cys | |
| XM_024450643.1:c.3511G>T | XP_024306411.1:p.Gly1171Cys | |
| NM_001005862.3:c.3373G>T | NP_001005862.1:p.Gly1125Cys | |
| NM_001289936.2:c.3418G>T | NP_001276865.1:p.Gly1140Cys | |
| NM_001289937.2:c.*42G>T | NP_001276866.1:n.*42G>T | |
| NM_001382782.1:c.3373G>T | NP_001369711.1:p.Gly1125Cys | |
| NM_001382783.1:c.3373G>T | NP_001369712.1:p.Gly1125Cys | |
| NM_001382784.1:c.3580G>T | NP_001369713.1:p.Gly1194Cys | |
| NM_001382785.1:c.3565G>T | NP_001369714.1:p.Gly1189Cys | |
| NM_001382786.1:c.3544G>T | NP_001369715.1:p.Gly1182Cys | |
| NM_001382787.1:c.3538G>T | NP_001369716.1:p.Gly1180Cys | |
| NM_001382788.1:c.3493G>T | NP_001369717.1:p.Gly1165Cys | |
| NM_001382789.1:c.3484G>T | NP_001369718.1:p.Gly1162Cys | |
| NM_001382790.1:c.3460G>T | NP_001369719.1:p.Gly1154Cys | |
| NM_001382791.1:c.3454G>T | NP_001369720.1:p.Gly1152Cys | |
| NM_001382792.1:c.3427G>T | NP_001369721.1:p.Gly1143Cys | |
| NM_001382793.1:c.3421G>T | NP_001369722.1:p.Gly1141Cys | |
| NM_001382794.1:c.3421G>T | NP_001369723.1:p.Gly1141Cys | |
| NM_001382795.1:c.3415G>T | NP_001369724.1:p.Gly1139Cys | |
| NM_001382796.1:c.3376G>T | NP_001369725.1:p.Gly1126Cys | |
| NM_001382797.1:c.3364G>T | NP_001369726.1:p.Gly1122Cys | |
| NM_001382798.1:c.3307G>T | NP_001369727.1:p.Gly1103Cys | |
| NM_001382799.1:c.3283G>T | NP_001369728.1:p.Gly1095Cys | |
| NM_001382800.1:c.3277G>T | NP_001369729.1:p.Gly1093Cys | |
| NM_001382801.1:c.3259G>T | NP_001369730.1:p.Gly1087Cys | |
| NM_001382802.1:c.3205G>T | NP_001369731.1:p.Gly1069Cys | |
| NM_001382803.1:c.*42G>T | NP_001369732.1:n.*42G>T | |
| NM_001382804.1:c.2635G>T | NP_001369733.1:p.Gly879Cys | |
| NM_001382805.1:c.2512G>T | NP_001369734.1:p.Gly838Cys | |
| NM_001382806.1:c.2425G>T | NP_001369735.1:p.Gly809Cys | |
| NM_004448.4:c.3463G>T MANE Select | NP_004439.2:p.Gly1155Cys | |
| NR_110535.2:n.3701G>T |