Linked Data
ClinVar Variation Id:
1132112
ClinVar RCV Id:
RCV001466213
dbSNP Id:
rs112561362
ExAC:
17:37883970 C / T
gnomAD v2:
17-37883970-C-T
gnomAD v3:
17-39727717-C-T
gnomAD v4:
17-39727717-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727717C>T , CM000679.2:g.39727717C>T | GRCh38 |
| NC_000017.10:g.37883970C>T , CM000679.1:g.37883970C>T | GRCh37 |
| NC_000017.9:g.35137496C>T | NCBI36 |
| NG_007503.1:g.44578C>T , LRG_724:g.44578C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3441C>T MANE Select | ENSP00000269571.4:p.Pro1147= | |
| ENST00000269571.9:c.3441C>T | ENSP00000269571.4:p.Pro1147= | |
| ENST00000406381.6:c.3351C>T | ENSP00000385185.2:p.Pro1117= | |
| ENST00000445658.6:c.2613C>T | ENSP00000404047.2:p.Pro871= | |
| ENST00000541774.5:c.3396C>T | ENSP00000446466.1:p.Pro1132= | |
| ENST00000578373.5:c.*3231C>T | ENSP00000463427.1:n.*3231C>T | |
| ENST00000584450.5:c.*20C>T | ENSP00000463714.1:n.*20C>T | |
| ENST00000584601.5:c.3351C>T | ENSP00000462438.1:p.Pro1117= | |
| NM_001005862.2:c.3351C>T , LRG_724t1:c.3351C>T | NP_001005862.1:p.Pro1117= | |
| NM_001289936.1:c.3396C>T , LRG_724t4:c.3396C>T | NP_001276865.1:p.Pro1132= | |
| NM_001289937.1:c.*20C>T | NP_001276866.1:n.*20C>T | |
| NM_004448.3:c.3441C>T , LRG_724t2:c.3441C>T | NP_004439.2:p.Pro1147= | |
| NR_110535.1:n.3765C>T | ||
| XM_024450641.1:c.3579C>T | XP_024306409.1:p.Pro1193= | |
| XM_024450642.1:c.3534C>T | XP_024306410.1:p.Pro1178= | |
| XM_024450643.1:c.3489C>T | XP_024306411.1:p.Pro1163= | |
| NM_001005862.3:c.3351C>T | NP_001005862.1:p.Pro1117= | |
| NM_001289936.2:c.3396C>T | NP_001276865.1:p.Pro1132= | |
| NM_001289937.2:c.*20C>T | NP_001276866.1:n.*20C>T | |
| NM_001382782.1:c.3351C>T | NP_001369711.1:p.Pro1117= | |
| NM_001382783.1:c.3351C>T | NP_001369712.1:p.Pro1117= | |
| NM_001382784.1:c.3558C>T | NP_001369713.1:p.Pro1186= | |
| NM_001382785.1:c.3543C>T | NP_001369714.1:p.Pro1181= | |
| NM_001382786.1:c.3522C>T | NP_001369715.1:p.Pro1174= | |
| NM_001382787.1:c.3516C>T | NP_001369716.1:p.Pro1172= | |
| NM_001382788.1:c.3471C>T | NP_001369717.1:p.Pro1157= | |
| NM_001382789.1:c.3462C>T | NP_001369718.1:p.Pro1154= | |
| NM_001382790.1:c.3438C>T | NP_001369719.1:p.Pro1146= | |
| NM_001382791.1:c.3432C>T | NP_001369720.1:p.Pro1144= | |
| NM_001382792.1:c.3405C>T | NP_001369721.1:p.Pro1135= | |
| NM_001382793.1:c.3399C>T | NP_001369722.1:p.Pro1133= | |
| NM_001382794.1:c.3399C>T | NP_001369723.1:p.Pro1133= | |
| NM_001382795.1:c.3393C>T | NP_001369724.1:p.Pro1131= | |
| NM_001382796.1:c.3354C>T | NP_001369725.1:p.Pro1118= | |
| NM_001382797.1:c.3342C>T | NP_001369726.1:p.Pro1114= | |
| NM_001382798.1:c.3285C>T | NP_001369727.1:p.Pro1095= | |
| NM_001382799.1:c.3261C>T | NP_001369728.1:p.Pro1087= | |
| NM_001382800.1:c.3255C>T | NP_001369729.1:p.Pro1085= | |
| NM_001382801.1:c.3237C>T | NP_001369730.1:p.Pro1079= | |
| NM_001382802.1:c.3183C>T | NP_001369731.1:p.Pro1061= | |
| NM_001382803.1:c.*20C>T | NP_001369732.1:n.*20C>T | |
| NM_001382804.1:c.2613C>T | NP_001369733.1:p.Pro871= | |
| NM_001382805.1:c.2490C>T | NP_001369734.1:p.Pro830= | |
| NM_001382806.1:c.2403C>T | NP_001369735.1:p.Pro801= | |
| NM_004448.4:c.3441C>T MANE Select | NP_004439.2:p.Pro1147= | |
| NR_110535.2:n.3679C>T |