Linked Data
ClinVar Variation Id:
1518724
ClinVar RCV Id:
RCV002024075
dbSNP Id:
rs756576808
ExAC:
5:33944968 C / T
gnomAD v2:
5-33944968-C-T
gnomAD v3:
5-33944863-C-T
gnomAD v4:
5-33944863-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33944863C>T , CM000667.2:g.33944863C>T | GRCh38 |
| NC_000005.9:g.33944968C>T , CM000667.1:g.33944968C>T | GRCh37 |
| NC_000005.8:g.33980725C>T | NCBI36 |
| NG_011691.2:g.44813G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.1378G>A MANE Select | ENSP00000296589.4:p.Ala460Thr | |
| ENST00000296589.8:c.1378G>A | ENSP00000296589.4:p.Ala460Thr | |
| NM_016180.4:c.1378G>A | NP_057264.3:p.Ala460Thr | |
| XM_011514051.1:c.976G>A | XP_011512353.1:p.Ala326Thr | |
| NM_016180.5:c.1378G>A MANE Select | NP_057264.4:p.Ala460Thr |