Linked Data
ClinVar Variation Id:
3132722
ClinVar RCV Id:
RCV004423632
dbSNP Id:
rs752670843
ExAC:
5:177031395 C / T
gnomAD v2:
5-177031395-C-T
gnomAD v4:
5-177604394-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177604394C>T , CM000667.2:g.177604394C>T | GRCh38 |
| NC_000005.9:g.177031395C>T , CM000667.1:g.177031395C>T | GRCh37 |
| NC_000005.8:g.176964001C>T | NCBI36 |
| NG_015977.1:g.9277C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000029410.10:c.266C>T MANE Select | ENSP00000029410.5:p.Ser89Phe | |
| ENST00000029410.9:c.266C>T | ENSP00000029410.5:p.Ser89Phe | |
| ENST00000502420.1:n.245C>T | ||
| ENST00000505433.5:c.266C>T | ENSP00000425591.1:p.Ser89Phe | |
| ENST00000505468.1:c.-77C>T | ENSP00000420886.1:n.-77C>T | |
| ENST00000507061.1:c.83C>T | ENSP00000423868.1:p.Ser28Phe | |
| ENST00000510761.1:c.-77C>T | ENSP00000423438.1:n.-77C>T | |
| NM_007255.2:c.266C>T | NP_009186.1:p.Ser89Phe | |
| XM_005265805.2:c.-77C>T | XP_005265862.1:n.-77C>T | |
| XM_006714816.2:c.-234C>T | XP_006714879.1:n.-234C>T | |
| XM_011534421.1:c.-77C>T | XP_011532723.1:n.-77C>T | |
| XM_006714816.4:c.-234C>T | XP_006714879.1:n.-234C>T | |
| XM_017008999.2:c.-77C>T | XP_016864488.1:n.-77C>T | |
| NM_007255.3:c.266C>T MANE Select | NP_009186.1:p.Ser89Phe |