Linked Data
ClinVar Variation Id:
6101
dbSNP Id:
rs121908610
ExAC:
8:65517384 G / A
gnomAD v2:
8-65517384-G-A
gnomAD v3:
8-64604827-G-A
gnomAD v4:
8-64604827-G-A
COSMIC:
COSM1673935
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64604827G>A , CM000670.2:g.64604827G>A | GRCh38 |
| NC_000008.10:g.65517384G>A , CM000670.1:g.65517384G>A | GRCh37 |
| NC_000008.9:g.65679938G>A | NCBI36 |
| NG_008338.1:g.198965C>T | |
| NG_008338.2:g.198965C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310193.4:c.1088C>T MANE Select | ENSP00000310721.3:p.Ser363Phe | |
| ENST00000310193.3:c.1088C>T | ENSP00000310721.3:p.Ser363Phe | |
| ENST00000523954.1:n.362C>T | ||
| NM_004820.3:c.1088C>T | NP_004811.1:p.Ser363Phe | |
| NM_001324112.1:c.1088C>T | NP_001311041.1:p.Ser363Phe | |
| NM_004820.4:c.1088C>T | NP_004811.1:p.Ser363Phe | |
| XM_017014002.1:c.1154C>T | XP_016869491.1:p.Ser385Phe | |
| NM_004820.5:c.1088C>T MANE Select | NP_004811.1:p.Ser363Phe | |
| NM_001324112.2:c.1088C>T | NP_001311041.1:p.Ser363Phe |