Linked Data
ClinVar Variation Id:
2466233
ClinVar RCV Id:
RCV003190675
dbSNP Id:
rs754720295
ExAC:
4:25158596 C / A
gnomAD v2:
4-25158596-C-A
gnomAD v3:
4-25156974-C-A
gnomAD v4:
4-25156974-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25156974C>A , CM000666.2:g.25156974C>A | GRCh38 |
| NC_000004.11:g.25158596C>A , CM000666.1:g.25158596C>A | GRCh37 |
| NC_000004.10:g.24767694C>A | NCBI36 |
| NG_028222.1:g.8609G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.270G>T MANE Select | ENSP00000371535.2:p.Arg90Ser | |
| ENST00000680581.1:c.270G>T | ENSP00000506483.1:p.Arg90Ser | |
| ENST00000680824.1:n.1486G>T | ||
| ENST00000681071.1:n.562G>T | ||
| ENST00000681166.1:n.1317G>T | ||
| ENST00000681341.1:n.1411G>T | ||
| ENST00000681640.1:n.364G>T | ||
| ENST00000681948.1:c.525G>T | ENSP00000505991.1:p.Arg175Ser | |
| ENST00000358971.7:c.*68G>T | ENSP00000351857.3:n.*68G>T | |
| ENST00000382103.6:c.270G>T | ENSP00000371535.2:p.Arg90Ser | |
| ENST00000514585.5:c.115G>T | ENSP00000421880.1:p.Val39Phe | |
| NM_016955.3:c.270G>T | NP_058651.3:p.Arg90Ser | |
| XM_005248168.2:c.33G>T | XP_005248225.1:p.Arg11Ser | |
| XM_006713965.2:c.90G>T | XP_006714028.1:p.Arg30Ser | |
| XM_011513846.1:c.267G>T | XP_011512148.1:p.Arg89Ser | |
| XM_011513847.1:c.237G>T | XP_011512149.1:p.Arg79Ser | |
| XM_011513848.1:c.90G>T | XP_011512150.1:p.Arg30Ser | |
| XM_011513846.2:c.267G>T | XP_011512148.1:p.Arg89Ser | |
| XM_011513847.2:c.237G>T | XP_011512149.1:p.Arg79Ser | |
| XM_017008277.1:c.525G>T | XP_016863766.1:p.Arg175Ser | |
| XM_017008278.1:c.-154G>T | XP_016863767.1:n.-154G>T | |
| NM_016955.4:c.270G>T MANE Select | NP_058651.3:p.Arg90Ser |