Linked Data
dbSNP Id:
rs144888208
ExAC:
17:61574319 C / T
gnomAD v2:
17-61574319-C-T
gnomAD v4:
17-63496958-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63496958C>T , CM000679.2:g.63496958C>T | GRCh38 |
| NC_000017.10:g.61574319C>T , CM000679.1:g.61574319C>T | GRCh37 |
| NC_000017.9:g.58928051C>T | NCBI36 |
| NG_011648.1:g.24886C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.3664C>T MANE Select | ENSP00000290866.4:p.Pro1222Ser | |
| ENST00000290863.10:c.1942C>T | ENSP00000290863.6:p.Pro648Ser | |
| ENST00000290866.9:c.3664C>T | ENSP00000290866.4:p.Pro1222Ser | |
| ENST00000413513.7:c.1819C>T | ENSP00000392247.3:p.Pro607Ser | |
| ENST00000428043.5:c.3664C>T | ENSP00000397593.2:p.Pro1222Ser | |
| ENST00000577418.5:n.674C>T | ||
| ENST00000577647.2:c.1942C>T | ENSP00000464149.1:p.Pro648Ser | |
| ENST00000578839.5:c.*1419C>T | ENSP00000462110.2:n.*1419C>T | |
| ENST00000579314.5:c.*1393C>T | ENSP00000462599.1:n.*1393C>T | |
| ENST00000579409.1:c.351C>T | ||
| ENST00000582244.1:n.538C>T | ||
| NM_000789.3:c.3664C>T | NP_000780.1:p.Pro1222Ser | |
| NM_001178057.1:c.1819C>T | NP_001171528.1:p.Pro607Ser | |
| NM_152830.2:c.1942C>T | NP_690043.1:p.Pro648Ser | |
| XM_005257110.1:c.3115C>T | XP_005257167.1:p.Pro1039Ser | |
| XM_006721737.2:c.2002C>T | XP_006721800.2:p.Pro668Ser | |
| XM_006721737.3:c.2002C>T | XP_006721800.2:p.Pro668Ser | |
| NM_000789.4:c.3664C>T MANE Select | NP_000780.1:p.Pro1222Ser | |
| NM_001178057.2:c.1819C>T | NP_001171528.1:p.Pro607Ser | |
| NM_152830.3:c.1942C>T | NP_690043.1:p.Pro648Ser | |
| NM_001382700.1:c.3097C>T | NP_001369629.1:p.Pro1033Ser | |
| NM_001382701.1:c.2812C>T | NP_001369630.1:p.Pro938Ser | |
| NM_001382702.1:c.1279C>T | NP_001369631.1:p.Pro427Ser | |
| NR_168483.1:n.2042C>T |