Linked Data
dbSNP Id:
rs201353217
ExAC:
17:37884142 C / T
gnomAD v2:
17-37884142-C-T
gnomAD v3:
17-39727889-C-T
gnomAD v4:
17-39727889-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727889C>T , CM000679.2:g.39727889C>T | GRCh38 |
| NC_000017.10:g.37884142C>T , CM000679.1:g.37884142C>T | GRCh37 |
| NC_000017.9:g.35137668C>T | NCBI36 |
| NG_007503.1:g.44750C>T , LRG_724:g.44750C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3613C>T MANE Select | ENSP00000269571.4:p.Pro1205Ser | |
| ENST00000269571.9:c.3613C>T | ENSP00000269571.4:p.Pro1205Ser | |
| ENST00000406381.6:c.3523C>T | ENSP00000385185.2:p.Pro1175Ser | |
| ENST00000445658.6:c.2785C>T | ENSP00000404047.2:p.Pro929Ser | |
| ENST00000541774.5:c.3568C>T | ENSP00000446466.1:p.Pro1190Ser | |
| ENST00000578373.5:c.*3403C>T | ENSP00000463427.1:n.*3403C>T | |
| ENST00000584450.5:c.*192C>T | ENSP00000463714.1:n.*192C>T | |
| ENST00000584601.5:c.3523C>T | ENSP00000462438.1:p.Pro1175Ser | |
| NM_001005862.2:c.3523C>T , LRG_724t1:c.3523C>T | NP_001005862.1:p.Pro1175Ser | |
| NM_001289936.1:c.3568C>T , LRG_724t4:c.3568C>T | NP_001276865.1:p.Pro1190Ser | |
| NM_001289937.1:c.*192C>T | NP_001276866.1:n.*192C>T | |
| NM_004448.3:c.3613C>T , LRG_724t2:c.3613C>T | NP_004439.2:p.Pro1205Ser | |
| NR_110535.1:n.3937C>T | ||
| XM_024450641.1:c.3751C>T | XP_024306409.1:p.Pro1251Ser | |
| XM_024450642.1:c.3706C>T | XP_024306410.1:p.Pro1236Ser | |
| XM_024450643.1:c.3661C>T | XP_024306411.1:p.Pro1221Ser | |
| NM_001005862.3:c.3523C>T | NP_001005862.1:p.Pro1175Ser | |
| NM_001289936.2:c.3568C>T | NP_001276865.1:p.Pro1190Ser | |
| NM_001289937.2:c.*192C>T | NP_001276866.1:n.*192C>T | |
| NM_001382782.1:c.3523C>T | NP_001369711.1:p.Pro1175Ser | |
| NM_001382783.1:c.3523C>T | NP_001369712.1:p.Pro1175Ser | |
| NM_001382784.1:c.3730C>T | NP_001369713.1:p.Pro1244Ser | |
| NM_001382785.1:c.3715C>T | NP_001369714.1:p.Pro1239Ser | |
| NM_001382786.1:c.3694C>T | NP_001369715.1:p.Pro1232Ser | |
| NM_001382787.1:c.3688C>T | NP_001369716.1:p.Pro1230Ser | |
| NM_001382788.1:c.3643C>T | NP_001369717.1:p.Pro1215Ser | |
| NM_001382789.1:c.3634C>T | NP_001369718.1:p.Pro1212Ser | |
| NM_001382790.1:c.3610C>T | NP_001369719.1:p.Pro1204Ser | |
| NM_001382791.1:c.3604C>T | NP_001369720.1:p.Pro1202Ser | |
| NM_001382792.1:c.3577C>T | NP_001369721.1:p.Pro1193Ser | |
| NM_001382793.1:c.3571C>T | NP_001369722.1:p.Pro1191Ser | |
| NM_001382794.1:c.3571C>T | NP_001369723.1:p.Pro1191Ser | |
| NM_001382795.1:c.3565C>T | NP_001369724.1:p.Pro1189Ser | |
| NM_001382796.1:c.3526C>T | NP_001369725.1:p.Pro1176Ser | |
| NM_001382797.1:c.3514C>T | NP_001369726.1:p.Pro1172Ser | |
| NM_001382798.1:c.3457C>T | NP_001369727.1:p.Pro1153Ser | |
| NM_001382799.1:c.3433C>T | NP_001369728.1:p.Pro1145Ser | |
| NM_001382800.1:c.3427C>T | NP_001369729.1:p.Pro1143Ser | |
| NM_001382801.1:c.3409C>T | NP_001369730.1:p.Pro1137Ser | |
| NM_001382802.1:c.3355C>T | NP_001369731.1:p.Pro1119Ser | |
| NM_001382803.1:c.*192C>T | NP_001369732.1:n.*192C>T | |
| NM_001382804.1:c.2785C>T | NP_001369733.1:p.Pro929Ser | |
| NM_001382805.1:c.2662C>T | NP_001369734.1:p.Pro888Ser | |
| NM_001382806.1:c.2575C>T | NP_001369735.1:p.Pro859Ser | |
| NM_004448.4:c.3613C>T MANE Select | NP_004439.2:p.Pro1205Ser | |
| NR_110535.2:n.3851C>T |