Linked Data
dbSNP Id:
rs200415936
ExAC:
17:45299104 T / C
gnomAD v2:
17-45299104-T-C
gnomAD v4:
17-47221738-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47221738T>C , CM000679.2:g.47221738T>C | GRCh38 |
| NC_000017.10:g.45299104T>C , CM000679.1:g.45299104T>C | GRCh37 |
| NC_000017.9:g.42654103T>C | NCBI36 |
| NG_052847.1:g.17722T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354968.5:c.370T>C | ENSP00000347055.1:p.Ser124Pro | |
| ENST00000393450.5:c.370T>C MANE Select | ENSP00000377096.1:p.Ser124Pro | |
| ENST00000536623.6:c.370T>C | ENSP00000442375.2:p.Ser124Pro | |
| ENST00000570671.1:c.81T>C | ||
| ENST00000570772.5:c.*156T>C | ENSP00000458194.1:n.*156T>C | |
| ENST00000571981.5:c.*156T>C | ENSP00000459035.1:n.*156T>C | |
| ENST00000572303.1:c.463T>C | ENSP00000461747.1:p.Ser155Pro | |
| ENST00000572316.5:c.370T>C | ENSP00000461570.1:p.Ser124Pro | |
| ENST00000573747.6:c.320T>C | ENSP00000460734.1:p.Phe107Ser | |
| ENST00000576874.5:c.370T>C | ENSP00000458907.1:p.Ser124Pro | |
| NM_001002841.1:c.370T>C | NP_001002841.1:p.Ser124Pro | |
| NM_002476.2:c.370T>C MANE Select | NP_002467.1:p.Ser124Pro | |
| XM_005257391.3:c.370T>C | XP_005257448.1:p.Ser124Pro | |
| XM_011524838.1:c.370T>C | XP_011523140.1:p.Ser124Pro | |
| XM_011524839.1:c.160T>C | XP_011523141.1:p.Ser54Pro | |
| XM_005257391.5:c.370T>C | XP_005257448.1:p.Ser124Pro | |
| XM_011524839.2:c.463T>C | XP_011523141.2:p.Ser155Pro | |
| XM_017024683.1:c.463T>C | XP_016880172.1:p.Ser155Pro | |
| XM_024450766.1:c.463T>C | XP_024306534.1:p.Ser155Pro | |
| NM_001002841.2:c.370T>C | NP_001002841.1:p.Ser124Pro |