Linked Data
dbSNP Id:
rs1131115
ExAC:
6:31239101 G / A
gnomAD v2:
6-31239101-G-A
gnomAD v3:
6-31271324-G-A
gnomAD v4:
6-31271324-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271324G>A , CM000668.2:g.31271324G>A | GRCh38 |
| NC_000006.11:g.31239101G>A , CM000668.1:g.31239101G>A | GRCh37 |
| NC_000006.10:g.31347080G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.368C>T MANE Select | ENSP00000365402.5:p.Ser123Phe | |
| ENST00000376228.9:c.368C>T | ENSP00000365402.5:p.Ser123Phe | |
| ENST00000376237.8:c.351C>T | ENSP00000365412.4:p.Val117= | |
| ENST00000383329.7:c.368C>T | ENSP00000372819.3:p.Ser123Phe | |
| ENST00000415537.1:c.366C>T | ||
| ENST00000484378.1:n.637C>T | ||
| ENST00000487245.5:n.727C>T | ||
| ENST00000495835.1:n.557C>T | ||
| NM_002117.5:c.368C>T | NP_002108.4:p.Ser123Phe | |
| NM_002117.6:c.368C>T MANE Select | NP_002108.4:p.Ser123Phe |