Linked Data
ClinVar Variation Id:
181280
dbSNP Id:
rs730880818
gnomAD v2:
14-23884353-C-T
gnomAD v4:
14-23415144-C-T
COSMIC:
COSM306005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23415144C>T , CM000676.2:g.23415144C>T | GRCh38 |
| NC_000014.8:g.23884353C>T , CM000676.1:g.23884353C>T | GRCh37 |
| NC_000014.7:g.22954193C>T | NCBI36 |
| NG_007884.1:g.25518G>A , LRG_384:g.25518G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355349.4:c.5410G>A MANE Select | ENSP00000347507.3:p.Ala1804Thr | |
| ENST00000355349.3:c.5410G>A | ENSP00000347507.3:p.Ala1804Thr | |
| NM_000257.3:c.5410G>A | NP_000248.2:p.Ala1804Thr | |
| XM_017021340.1:c.5410G>A | XP_016876829.1:p.Ala1804Thr | |
| NM_000257.4:c.5410G>A MANE Select | NP_000248.2:p.Ala1804Thr |