Linked Data
dbSNP Id:
rs757781259
ExAC:
5:161580357 T / C
gnomAD v2:
5-161580357-T-C
gnomAD v4:
5-162153351-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162153351T>C , CM000667.2:g.162153351T>C | GRCh38 |
| NC_000005.9:g.161580357T>C , CM000667.1:g.161580357T>C | GRCh37 |
| NC_000005.8:g.161512935T>C | NCBI36 |
| NG_009290.1:g.90710T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356592.8:c.1412T>C | ||
| ENST00000361925.9:c.1507T>C | ENSP00000354651.5:p.Ser503Pro | |
| ENST00000523372.2:c.1470T>C | ||
| ENST00000638253.1:n.665T>C | ||
| ENST00000638552.1:c.1102T>C | ENSP00000491763.1:p.Ser368Pro | |
| ENST00000638660.1:c.1126T>C | ENSP00000492869.1:p.Ser376Pro | |
| ENST00000638772.1:c.*4008T>C | ENSP00000491557.1:n.*4008T>C | |
| ENST00000638877.1:c.1288T>C | ||
| ENST00000639046.1:c.778T>C | ENSP00000492659.1:p.Ser260Pro | |
| ENST00000639111.2:c.1387T>C | ENSP00000492125.2:p.Ser463Pro | |
| ENST00000639213.2:c.1411T>C MANE Select | ENSP00000491909.2:p.Ser471Pro | |
| ENST00000639278.1:c.2074T>C | ENSP00000491958.1:n.2074T>C | |
| ENST00000639384.1:c.*1592T>C | ENSP00000491240.1:n.*1592T>C | |
| ENST00000639424.1:c.*611T>C | ENSP00000491245.1:n.*611T>C | |
| ENST00000639683.1:c.1345T>C | ENSP00000492581.1:p.Ser449Pro | |
| ENST00000639975.1:c.1321T>C | ENSP00000492096.1:p.Ser441Pro | |
| ENST00000640500.1:n.685T>C | ||
| ENST00000640739.1:n.6358T>C | ||
| ENST00000640910.1:c.849T>C | ||
| ENST00000640985.1:c.1324T>C | ENSP00000492293.1:p.Ser442Pro | |
| ENST00000641017.1:c.1480T>C | ENSP00000493461.1:p.Ser494Pro | |
| ENST00000356592.7:c.1411T>C | ENSP00000349000.3:p.Ser471Pro | |
| ENST00000361925.8:c.1387T>C | ENSP00000354651.4:p.Ser463Pro | |
| ENST00000414552.6:c.1531T>C | ENSP00000410732.2:p.Ser511Pro | |
| ENST00000522990.5:c.*989T>C | ENSP00000430732.1:n.*989T>C | |
| ENST00000523372.1:c.1508T>C | ENSP00000430124.1:n.1508T>C | |
| NM_000816.3:c.1387T>C | NP_000807.2:p.Ser463Pro | |
| NM_198903.2:c.1531T>C | NP_944493.2:p.Ser511Pro | |
| NM_198904.2:c.1411T>C | NP_944494.1:p.Ser471Pro | |
| NM_001375339.1:c.1402T>C | NP_001362268.1:p.Ser468Pro | |
| NM_001375340.1:c.*245T>C | NP_001362269.1:n.*245T>C | |
| NM_001375341.1:c.1408T>C | NP_001362270.1:p.Ser470Pro | |
| NM_001375342.1:c.1384T>C | NP_001362271.1:p.Ser462Pro | |
| NM_001375343.1:c.1507T>C | NP_001362272.1:p.Ser503Pro | |
| NM_001375344.1:c.1450T>C | NP_001362273.1:p.Ser484Pro | |
| NM_001375345.1:c.1321T>C | NP_001362274.1:p.Ser441Pro | |
| NM_001375346.1:c.1345T>C | NP_001362275.1:p.Ser449Pro | |
| NM_001375347.1:c.1324T>C | NP_001362276.1:p.Ser442Pro | |
| NM_001375348.1:c.967T>C | NP_001362277.1:p.Ser323Pro | |
| NM_001375349.1:c.1102T>C | NP_001362278.1:p.Ser368Pro | |
| NM_001375350.1:c.991T>C | NP_001362279.1:p.Ser331Pro | |
| NM_198904.3:c.1411T>C | NP_944494.1:p.Ser471Pro | |
| NM_198904.4:c.1411T>C MANE Select | NP_944494.1:p.Ser471Pro |