Linked Data
ClinVar Variation Id:
281494
dbSNP Id:
rs748447295
ExAC:
16:30727634 C / T
gnomAD v2:
16-30727634-C-T
gnomAD v3:
16-30716313-C-T
gnomAD v4:
16-30716313-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30716313C>T , CM000678.2:g.30716313C>T | GRCh38 |
| NC_000016.9:g.30727634C>T , CM000678.1:g.30727634C>T | GRCh37 |
| NC_000016.8:g.30635135C>T | NCBI36 |
| NG_032135.1:g.22173C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411466.7:c.2651C>T | ENSP00000405186.3:p.Thr884Ile | |
| ENST00000706321.1:c.2651C>T | ENSP00000516346.1:p.Thr884Ile | |
| ENST00000262518.9:c.2651C>T MANE Select | ENSP00000262518.4:p.Thr884Ile | |
| ENST00000262518.8:c.2651C>T | ENSP00000262518.4:p.Thr884Ile | |
| ENST00000380361.7:c.2594C>T | ENSP00000369719.3:p.Thr865Ile | |
| ENST00000395059.6:c.2060C>T | ENSP00000378499.3:p.Thr687Ile | |
| ENST00000483083.3:c.1750C>T | ||
| NM_006662.2:c.2651C>T | NP_006653.2:p.Thr884Ile | |
| NM_006662.3:c.2651C>T MANE Select | NP_006653.2:p.Thr884Ile |