Linked Data
dbSNP Id:
rs748171942
ExAC:
4:25158508 A / G
gnomAD v2:
4-25158508-A-G
gnomAD v4:
4-25156886-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25156886A>G , CM000666.2:g.25156886A>G | GRCh38 |
| NC_000004.11:g.25158508A>G , CM000666.1:g.25158508A>G | GRCh37 |
| NC_000004.10:g.24767606A>G | NCBI36 |
| NG_028222.1:g.8697T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.358T>C MANE Select | ENSP00000371535.2:p.Ser120Pro | |
| ENST00000680581.1:c.358T>C | ENSP00000506483.1:p.Ser120Pro | |
| ENST00000680824.1:n.1574T>C | ||
| ENST00000681071.1:n.650T>C | ||
| ENST00000681166.1:n.1405T>C | ||
| ENST00000681341.1:n.1499T>C | ||
| ENST00000681640.1:n.452T>C | ||
| ENST00000681948.1:c.613T>C | ENSP00000505991.1:p.Ser205Pro | |
| ENST00000358971.7:c.*156T>C | ENSP00000351857.3:n.*156T>C | |
| ENST00000382103.6:c.358T>C | ENSP00000371535.2:p.Ser120Pro | |
| ENST00000514585.5:c.*59T>C | ENSP00000421880.1:n.*59T>C | |
| NM_016955.3:c.358T>C | NP_058651.3:p.Ser120Pro | |
| XM_005248168.2:c.121T>C | XP_005248225.1:p.Ser41Pro | |
| XM_006713965.2:c.178T>C | XP_006714028.1:p.Ser60Pro | |
| XM_011513846.1:c.355T>C | XP_011512148.1:p.Ser119Pro | |
| XM_011513847.1:c.325T>C | XP_011512149.1:p.Ser109Pro | |
| XM_011513848.1:c.178T>C | XP_011512150.1:p.Ser60Pro | |
| XM_011513846.2:c.355T>C | XP_011512148.1:p.Ser119Pro | |
| XM_011513847.2:c.325T>C | XP_011512149.1:p.Ser109Pro | |
| XM_017008277.1:c.613T>C | XP_016863766.1:p.Ser205Pro | |
| XM_017008278.1:c.-66T>C | XP_016863767.1:n.-66T>C | |
| NM_016955.4:c.358T>C MANE Select | NP_058651.3:p.Ser120Pro |