Linked Data
dbSNP Id:
rs1251327294
gnomAD v2:
10-50732596-C-T
gnomAD v4:
10-49524550-C-T
COSMIC:
COSM918678
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49524550C>T , CM000672.2:g.49524550C>T | GRCh38 |
| NC_000010.10:g.50732596C>T , CM000672.1:g.50732596C>T | GRCh37 |
| NC_000010.9:g.50402602C>T | NCBI36 |
| NG_009442.1:g.19552G>A , LRG_465:g.19552G>A | |
| NG_033155.1:g.4732G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.880G>A MANE Select | ENSP00000348089.5:p.Ala294Thr | |
| ENST00000447839.7:c.880G>A MANE Plus Clinical | ENSP00000387966.2:p.Ala294Thr | |
| ENST00000679596.1:c.*509G>A | ENSP00000504862.1:n.*509G>A | |
| ENST00000679811.1:n.963G>A | ||
| ENST00000680107.1:c.652+3867G>A | ENSP00000505909.1:n.652+3867G>A | |
| ENST00000680233.1:n.973G>A | ||
| ENST00000681632.1:n.958G>A | ||
| ENST00000681659.1:c.880G>A | ENSP00000505631.1:p.Ala294Thr | |
| ENST00000355832.9:c.880G>A | ENSP00000348089.5:p.Ala294Thr | |
| ENST00000447839.6:c.880G>A | ENSP00000387966.2:p.Ala294Thr | |
| ENST00000515869.1:c.880G>A | ENSP00000423550.1:p.Ala294Thr | |
| NM_000124.3:c.880G>A | NP_000115.1:p.Ala294Thr | |
| NM_001277058.1:c.880G>A | NP_001263987.1:p.Ala294Thr | |
| NM_001277059.1:c.880G>A | NP_001263988.1:p.Ala294Thr | |
| NM_001346440.1:c.880G>A | NP_001333369.1:p.Ala294Thr | |
| NM_000124.4:c.880G>A MANE Select | NP_000115.1:p.Ala294Thr | |
| NM_001277058.2:c.880G>A MANE Plus Clinical | NP_001263987.1:p.Ala294Thr | |
| NM_001277059.2:c.880G>A | NP_001263988.1:p.Ala294Thr | |
| NM_001346440.2:c.880G>A | NP_001333369.1:p.Ala294Thr |