Linked Data
ClinVar Variation Id:
283349
ClinVar RCV Id:
RCV002411150
dbSNP Id:
rs367753936
ExAC:
15:73617459 C / T
gnomAD v2:
15-73617459-C-T
gnomAD v3:
15-73325118-C-T
gnomAD v4:
15-73325118-C-T
COSMIC:
COSM4056727
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73325118C>T , CM000677.2:g.73325118C>T | GRCh38 |
| NC_000015.9:g.73617459C>T , CM000677.1:g.73617459C>T | GRCh37 |
| NC_000015.8:g.71404512C>T | NCBI36 |
| NG_009063.1:g.49147G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.1815G>A MANE Select | ENSP00000261917.3:p.Thr605= | |
| ENST00000261917.3:c.1815G>A | ENSP00000261917.3:p.Thr605= | |
| NM_005477.2:c.1815G>A | NP_005468.1:p.Thr605= | |
| XM_011521148.1:c.597G>A | XP_011519450.1:p.Thr199= | |
| XM_011521148.2:c.597G>A | XP_011519450.1:p.Thr199= | |
| NM_005477.3:c.1815G>A MANE Select | NP_005468.1:p.Thr605= |