Linked Data
ClinVar Variation Id:
205072
ClinVar RCV Id:
RCV000186992
dbSNP Id:
rs796052327
gnomAD v4:
1-154571671-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571671T>C , CM000663.2:g.154571671T>C | GRCh38 |
| NC_000001.10:g.154544147T>C , CM000663.1:g.154544147T>C | GRCh37 |
| NC_000001.9:g.152810771T>C | NCBI36 |
| NG_008027.1:g.8891T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.848T>C MANE Select | ENSP00000357461.3:p.Ile283Thr | |
| ENST00000636034.1:c.848T>C | ENSP00000489703.1:p.Ile283Thr | |
| ENST00000637900.1:c.854T>C | ENSP00000490474.1:p.Ile285Thr | |
| ENST00000368476.3:c.848T>C | ENSP00000357461.3:p.Ile283Thr | |
| NM_000748.2:c.848T>C | NP_000739.1:p.Ile283Thr | |
| XM_017000180.2:c.338T>C | XP_016855669.1:p.Ile113Thr | |
| XR_001736952.2:n.1100T>C | ||
| NM_000748.3:c.848T>C MANE Select | NP_000739.1:p.Ile283Thr |