Linked Data
ClinVar Variation Id:
493182
ClinVar RCV Id:
RCV000585096
dbSNP Id:
rs1555475381
gnomAD v4:
16-51141650-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.51141650A>G , CM000678.2:g.51141650A>G | GRCh38 |
| NC_000016.9:g.51175561A>G , CM000678.1:g.51175561A>G | GRCh37 |
| NC_000016.8:g.49733062A>G | NCBI36 |
| NG_007990.1:g.14623T>C , LRG_674:g.14623T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440970.6:c.572T>C | ENSP00000407914.2:p.Ile191Thr | |
| ENST00000570206.2:c.281T>C | ENSP00000456777.2:p.Ile94Thr | |
| ENST00000685868.1:c.572T>C | ENSP00000509873.1:p.Ile191Thr | |
| ENST00000690502.1:c.572T>C | ENSP00000510560.1:p.Ile191Thr | |
| ENST00000251020.9:c.572T>C MANE Select | ENSP00000251020.4:p.Ile191Thr | |
| ENST00000251020.8:c.572T>C | ENSP00000251020.4:p.Ile191Thr | |
| ENST00000440970.5:c.281T>C | ENSP00000407914.1:p.Ile94Thr | |
| ENST00000566102.1:c.77-4098T>C | ENSP00000455582.1:n.77-4098T>C | |
| ENST00000570206.1:c.281T>C | ENSP00000456777.1:p.Ile94Thr | |
| NM_001127892.1:c.281T>C | NP_001121364.1:p.Ile94Thr | |
| NM_002968.2:c.572T>C , LRG_674t1:c.572T>C | NP_002959.2:p.Ile191Thr | |
| XM_006721241.2:c.572T>C | XP_006721304.1:p.Ile191Thr | |
| XM_011523254.1:c.572T>C | XP_011521556.1:p.Ile191Thr | |
| XM_011523255.1:c.572T>C | XP_011521557.1:p.Ile191Thr | |
| NM_002968.3:c.572T>C MANE Select | NP_002959.2:p.Ile191Thr | |
| NM_001127892.2:c.281T>C | NP_001121364.1:p.Ile94Thr |