ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149028480G>A , CM000667.2:g.149028480G>A | GRCh38 |
| NC_000005.9:g.148408043G>A , CM000667.1:g.148408043G>A | GRCh37 |
| NC_000005.8:g.148388236G>A | NCBI36 |
| NG_007947.2:g.39695C>T , LRG_269:g.39695C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.1272C>T | ||
| ENST00000515425.6:c.1252C>T MANE Select | ENSP00000423660.1:p.Gln418Ter | |
| ENST00000675793.1:c.*536C>T | ENSP00000502039.1:n.*536C>T | |
| ENST00000676056.1:c.*762C>T | ENSP00000501827.1:n.*762C>T | |
| ENST00000323829.9:c.*640C>T | ENSP00000313025.5:n.*640C>T | |
| ENST00000504517.5:c.782C>T | ENSP00000421779.1:n.782C>T | |
| ENST00000504690.5:c.1252C>T | ENSP00000425627.1:p.Gln418Ter | |
| ENST00000510779.1:c.302C>T | ||
| ENST00000511307.5:c.*1032C>T | ENSP00000421420.1:n.*1032C>T | |
| ENST00000512049.5:c.1231C>T | ENSP00000421860.1:p.Gln411Ter | |
| ENST00000513340.1:n.626C>T | ||
| ENST00000513604.5:c.*640C>T | ENSP00000423111.1:n.*640C>T | |
| ENST00000515425.5:c.1252C>T | ENSP00000423660.1:p.Gln418Ter | |
| NM_024577.3:c.1252C>T , LRG_269t1:c.1252C>T | NP_078853.2:p.Gln418Ter | |
| NM_024577.4:c.1252C>T MANE Select | NP_078853.2:p.Gln418Ter |