Linked Data
dbSNP Id:
rs773590215
ExAC:
5:45462056 G / A
gnomAD v2:
5-45462056-G-A
gnomAD v3:
5-45461954-G-A
gnomAD v4:
5-45461954-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45461954G>A , CM000667.2:g.45461954G>A | GRCh38 |
| NC_000005.9:g.45462056G>A , CM000667.1:g.45462056G>A | GRCh37 |
| NC_000005.8:g.45497813G>A | NCBI36 |
| NG_042183.1:g.239165C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.903C>T MANE Select | ENSP00000307342.4:p.Leu301= | |
| ENST00000637305.1:n.66C>T | ||
| ENST00000673735.1:c.903C>T | ENSP00000501107.1:p.Leu301= | |
| ENST00000303230.5:c.903C>T | ENSP00000307342.4:p.Leu301= | |
| NM_021072.3:c.903C>T | NP_066550.2:p.Leu301= | |
| NM_021072.4:c.903C>T MANE Select | NP_066550.2:p.Leu301= |