Linked Data
ClinVar Variation Id:
1955185
ClinVar RCV Id:
RCV002715221
dbSNP Id:
rs1414932356
gnomAD v2:
2-16085723-C-T
gnomAD v3:
2-15945601-C-T
gnomAD v4:
2-15945601-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15945601C>T , CM000664.2:g.15945601C>T | GRCh38 |
| NC_000002.11:g.16085723C>T , CM000664.1:g.16085723C>T | GRCh37 |
| NC_000002.10:g.16003174C>T | NCBI36 |
| NG_007457.1:g.10041C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703162.1:n.248C>T | ||
| ENST00000281043.4:c.899C>T MANE Select | ENSP00000281043.3:p.Thr300Ile | |
| ENST00000638417.1:c.266C>T | ENSP00000491476.1:p.Thr89Ile | |
| ENST00000281043.3:c.899C>T | ENSP00000281043.3:p.Thr300Ile | |
| NM_001293228.1:c.899C>T | NP_001280157.1:p.Thr300Ile | |
| NM_001293231.1:c.266C>T | NP_001280160.1:p.Thr89Ile | |
| NM_001293233.1:c.*834C>T | NP_001280162.1:n.*834C>T | |
| NM_005378.5:c.899C>T | NP_005369.2:p.Thr300Ile | |
| NM_005378.6:c.899C>T MANE Select | NP_005369.2:p.Thr300Ile | |
| NM_001293228.2:c.899C>T | NP_001280157.1:p.Thr300Ile | |
| NM_001293231.2:c.266C>T | NP_001280160.1:p.Thr89Ile | |
| NM_001293233.2:c.*834C>T | NP_001280162.1:n.*834C>T |