Linked Data
ClinVar Variation Id:
1238
dbSNP Id:
rs121908286
gnomAD v2:
8-43052825-C-T
gnomAD v3:
8-43197682-C-T
gnomAD v4:
8-43197682-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43197682C>T , CM000670.2:g.43197682C>T | GRCh38 |
| NC_000008.10:g.43052825C>T , CM000670.1:g.43052825C>T | GRCh37 |
| NC_000008.9:g.43171982C>T | NCBI36 |
| NG_009552.1:g.62234C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379644.9:c.1553C>T MANE Select | ENSP00000368965.4:p.Ser518Phe | |
| ENST00000379644.8:c.1553C>T | ENSP00000368965.4:p.Ser518Phe | |
| ENST00000519705.1:n.869C>T | ||
| ENST00000521576.1:c.704C>T | ENSP00000429029.1:p.Ser235Phe | |
| ENST00000523989.1:n.1866C>T | ||
| NM_152419.2:c.1553C>T | NP_689632.2:p.Ser518Phe | |
| XM_005273409.1:c.1664C>T | XP_005273466.1:p.Ser555Phe | |
| XM_005273410.1:c.1640C>T | XP_005273467.1:p.Ser547Phe | |
| XM_005273411.1:c.1472C>T | XP_005273468.1:p.Ser491Phe | |
| NM_001363227.1:c.1640C>T | NP_001350156.1:p.Ser547Phe | |
| NM_001363228.1:c.1361C>T | NP_001350157.1:p.Ser454Phe | |
| NM_001363229.1:c.689C>T | NP_001350158.1:p.Ser230Phe | |
| NM_152419.3:c.1553C>T MANE Select | NP_689632.2:p.Ser518Phe | |
| NM_001363227.2:c.1640C>T | NP_001350156.1:p.Ser547Phe | |
| NM_001363228.2:c.1361C>T | NP_001350157.1:p.Ser454Phe | |
| NM_001363229.2:c.689C>T | NP_001350158.1:p.Ser230Phe |