Linked Data
ClinVar Variation Id:
423505
dbSNP Id:
rs757311213
ExAC:
5:161580102 C / T
gnomAD v2:
5-161580102-C-T
gnomAD v4:
5-162153096-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162153096C>T , CM000667.2:g.162153096C>T | GRCh38 |
| NC_000005.9:g.161580102C>T , CM000667.1:g.161580102C>T | GRCh37 |
| NC_000005.8:g.161512680C>T | NCBI36 |
| NG_009290.1:g.90455C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356592.8:c.1157C>T | ||
| ENST00000361925.9:c.1252C>T | ENSP00000354651.5:p.Pro418Ser | |
| ENST00000523372.2:c.1215C>T | ||
| ENST00000638253.1:n.410C>T | ||
| ENST00000638552.1:c.847C>T | ENSP00000491763.1:p.Pro283Ser | |
| ENST00000638660.1:c.871C>T | ENSP00000492869.1:p.Pro291Ser | |
| ENST00000638772.1:c.*3753C>T | ENSP00000491557.1:n.*3753C>T | |
| ENST00000638877.1:c.1033C>T | ||
| ENST00000639046.1:c.523C>T | ENSP00000492659.1:p.Pro175Ser | |
| ENST00000639111.2:c.1132C>T | ENSP00000492125.2:p.Pro378Ser | |
| ENST00000639213.2:c.1156C>T MANE Select | ENSP00000491909.2:p.Pro386Ser | |
| ENST00000639278.1:c.1819C>T | ENSP00000491958.1:n.1819C>T | |
| ENST00000639384.1:c.*1337C>T | ENSP00000491240.1:n.*1337C>T | |
| ENST00000639424.1:c.*356C>T | ENSP00000491245.1:n.*356C>T | |
| ENST00000639683.1:c.1090C>T | ENSP00000492581.1:p.Pro364Ser | |
| ENST00000639975.1:c.1066C>T | ENSP00000492096.1:p.Pro356Ser | |
| ENST00000640500.1:n.430C>T | ||
| ENST00000640739.1:n.6103C>T | ||
| ENST00000640910.1:c.594C>T | ||
| ENST00000640985.1:c.1069C>T | ENSP00000492293.1:p.Pro357Ser | |
| ENST00000641017.1:c.1225C>T | ENSP00000493461.1:p.Pro409Ser | |
| ENST00000356592.7:c.1156C>T | ENSP00000349000.3:p.Pro386Ser | |
| ENST00000361925.8:c.1132C>T | ENSP00000354651.4:p.Pro378Ser | |
| ENST00000414552.6:c.1276C>T | ENSP00000410732.2:p.Pro426Ser | |
| ENST00000522990.5:c.*734C>T | ENSP00000430732.1:n.*734C>T | |
| ENST00000523372.1:c.1253C>T | ENSP00000430124.1:n.1253C>T | |
| NM_000816.3:c.1132C>T | NP_000807.2:p.Pro378Ser | |
| NM_198903.2:c.1276C>T | NP_944493.2:p.Pro426Ser | |
| NM_198904.2:c.1156C>T | NP_944494.1:p.Pro386Ser | |
| NM_001375339.1:c.1147C>T | NP_001362268.1:p.Pro383Ser | |
| NM_001375340.1:c.950C>T | NP_001362269.1:p.Pro317Leu | |
| NM_001375341.1:c.1153C>T | NP_001362270.1:p.Pro385Ser | |
| NM_001375342.1:c.1129C>T | NP_001362271.1:p.Pro377Ser | |
| NM_001375343.1:c.1252C>T | NP_001362272.1:p.Pro418Ser | |
| NM_001375344.1:c.1195C>T | NP_001362273.1:p.Pro399Ser | |
| NM_001375345.1:c.1066C>T | NP_001362274.1:p.Pro356Ser | |
| NM_001375346.1:c.1090C>T | NP_001362275.1:p.Pro364Ser | |
| NM_001375347.1:c.1069C>T | NP_001362276.1:p.Pro357Ser | |
| NM_001375348.1:c.712C>T | NP_001362277.1:p.Pro238Ser | |
| NM_001375349.1:c.847C>T | NP_001362278.1:p.Pro283Ser | |
| NM_001375350.1:c.736C>T | NP_001362279.1:p.Pro246Ser | |
| NM_198904.3:c.1156C>T | NP_944494.1:p.Pro386Ser | |
| NM_198904.4:c.1156C>T MANE Select | NP_944494.1:p.Pro386Ser |