Linked Data
ClinVar Variation Id:
874552
ClinVar RCV Id:
RCV001097595
dbSNP Id:
rs1640786376
gnomAD v4:
1-7984909-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7984909C>T , CM000663.2:g.7984909C>T | GRCh38 |
| NC_000001.10:g.8044969C>T , CM000663.1:g.8044969C>T | GRCh37 |
| NC_000001.9:g.7967556C>T | NCBI36 |
| NG_008271.1:g.28256C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338639.10:c.425C>T MANE Select | ENSP00000340278.5:p.Ser142Phe | |
| ENST00000338639.9:c.425C>T | ENSP00000340278.5:p.Ser142Phe | |
| ENST00000377488.5:c.425C>T | ENSP00000366708.1:p.Ser142Phe | |
| ENST00000377491.5:c.425C>T | ENSP00000366711.1:p.Ser142Phe | |
| ENST00000377493.9:c.365C>T | ENSP00000466242.1:p.Ser122Phe | |
| ENST00000469225.1:c.338C>T | ENSP00000466756.1:p.Ser113Phe | |
| ENST00000493373.5:c.425C>T | ENSP00000465404.1:p.Ser142Phe | |
| ENST00000493678.5:c.425C>T | ENSP00000418770.1:p.Ser142Phe | |
| NM_001123377.1:c.425C>T | NP_001116849.1:p.Ser142Phe | |
| NM_007262.4:c.425C>T | NP_009193.2:p.Ser142Phe | |
| XM_005263424.2:c.425C>T | XP_005263481.1:p.Ser142Phe | |
| XM_005263424.3:c.425C>T | XP_005263481.1:p.Ser142Phe | |
| NM_007262.5:c.425C>T MANE Select | NP_009193.2:p.Ser142Phe | |
| NM_001123377.2:c.425C>T | NP_001116849.1:p.Ser142Phe |