MyVariant.info:
GRCh37
chr1:g.186141193C>A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186172061C>A , CM000663.2:g.186172061C>A | GRCh38 |
| NC_000001.10:g.186141193C>A , CM000663.1:g.186141193C>A | GRCh37 |
| NC_000001.9:g.184407816C>A | NCBI36 |
| NG_011841.1:g.442511C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15744C>A MANE Select | ENSP00000271588.4:p.Thr5248= | |
| ENST00000271588.8:c.15744C>A | ENSP00000271588.4:p.Thr5248= | |
| ENST00000414277.1:c.120C>A | ENSP00000406205.1:p.Thr40= | |
| ENST00000475585.1:n.332C>A | ||
| NM_031935.2:c.15744C>A | NP_114141.2:p.Thr5248= | |
| XM_011510037.1:c.15459C>A | XP_011508339.1:p.Thr5153= | |
| XM_011510038.1:c.15744C>A | XP_011508340.1:p.Thr5248= | |
| XM_011510038.3:c.15744C>A | XP_011508340.1:p.Thr5248= | |
| XM_017002437.1:c.13767C>A | XP_016857926.1:p.Thr4589= | |
| NM_031935.3:c.15744C>A MANE Select | NP_114141.2:p.Thr5248= |