Linked Data
dbSNP Id:
rs1778092958
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24658595C>A , CM000668.2:g.24658595C>A | GRCh38 |
| NC_000006.11:g.24658823C>A , CM000668.1:g.24658823C>A | GRCh37 |
| NC_000006.10:g.24766802C>A | NCBI36 |
| NG_052787.1:g.13293G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378198.9:c.391G>T MANE Select | ENSP00000367440.4:p.Glu131Ter | |
| ENST00000341060.3:c.217G>T | ENSP00000345345.3:p.Glu73Ter | |
| ENST00000378198.8:c.391G>T | ENSP00000367440.4:p.Glu131Ter | |
| ENST00000478285.1:n.578G>T | ||
| ENST00000478507.1:n.320-5442G>T | ||
| NM_016614.2:c.391G>T | NP_057698.2:p.Glu131Ter | |
| XR_926244.1:n.518G>T | ||
| NM_016614.3:c.391G>T MANE Select | NP_057698.2:p.Glu131Ter |