Linked Data
MyVariant Identifiers:
chr1:g.17349112G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022617G>T , CM000663.2:g.17022617G>T | GRCh38 |
| NC_000001.10:g.17349112G>T , CM000663.1:g.17349112G>T | GRCh37 |
| NC_000001.9:g.17221699G>T | NCBI36 |
| NG_012340.1:g.36554C>A , LRG_316:g.36554C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.585C>A | ENSP00000481376.2:p.Thr195= | |
| ENST00000491274.6:c.714C>A | ENSP00000480482.2:p.Thr238= | |
| ENST00000375499.8:c.756C>A MANE Select | ENSP00000364649.3:p.Thr252= | |
| ENST00000375499.7:c.756C>A | ENSP00000364649.3:p.Thr252= | |
| ENST00000475049.5:n.181C>A | ||
| ENST00000485092.5:n.420C>A | ||
| ENST00000485515.5:n.690C>A | ||
| NM_003000.2:c.756C>A , LRG_316t1:c.756C>A | NP_002991.2:p.Thr252= | |
| NM_003000.3:c.756C>A MANE Select | NP_002991.2:p.Thr252= |