Linked Data
ClinVar Variation Id:
2215480
ClinVar RCV Id:
RCV002656315
dbSNP Id:
rs774822844
ExAC:
8:105510158 T / C
gnomAD v2:
8-105510158-T-C
gnomAD v3:
8-104497930-T-C
gnomAD v4:
8-104497930-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.104497930T>C , CM000670.2:g.104497930T>C | GRCh38 |
| NC_000008.10:g.105510158T>C , CM000670.1:g.105510158T>C | GRCh37 |
| NC_000008.9:g.105579334T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276654.10:c.622A>G MANE Select | ENSP00000276654.5:p.Thr208Ala | |
| ENST00000276654.9:c.622A>G | ENSP00000276654.5:p.Thr208Ala | |
| ENST00000424843.6:c.565A>G | ENSP00000399148.2:p.Thr189Ala | |
| ENST00000520770.1:n.677A>G | ||
| NM_001135703.2:c.565A>G | NP_001129175.1:p.Thr189Ala | |
| NM_013437.4:c.622A>G | NP_038465.1:p.Thr208Ala | |
| NM_001135703.3:c.565A>G | NP_001129175.1:p.Thr189Ala | |
| NM_013437.5:c.622A>G MANE Select | NP_038465.1:p.Thr208Ala |