Linked Data
dbSNP Id:
rs746694870
ExAC:
15:74631950 C / T
gnomAD v2:
15-74631950-C-T
gnomAD v4:
15-74339609-C-T
COSMIC:
COSM5035490
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74339609C>T , CM000677.2:g.74339609C>T | GRCh38 |
| NC_000015.9:g.74631950C>T , CM000677.1:g.74631950C>T | GRCh37 |
| NC_000015.8:g.72419003C>T | NCBI36 |
| NG_007973.1:g.33133G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268053.11:c.1135G>A MANE Select | ENSP00000268053.6:p.Ala379Thr | |
| ENST00000268053.10:c.1135G>A | ENSP00000268053.6:p.Ala379Thr | |
| ENST00000358632.8:c.661G>A | ENSP00000351455.4:p.Ala221Thr | |
| ENST00000435365.5:c.1135G>A | ENSP00000391081.1:p.Ala379Thr | |
| ENST00000566674.5:c.661G>A | ENSP00000456941.1:p.Ala221Thr | |
| NM_000781.2:c.1135G>A | NP_000772.2:p.Ala379Thr | |
| NM_001099773.1:c.661G>A | NP_001093243.1:p.Ala221Thr | |
| NM_000781.3:c.1135G>A MANE Select | NP_000772.2:p.Ala379Thr | |
| NM_001099773.2:c.661G>A | NP_001093243.1:p.Ala221Thr |