Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119421795C>A , CM000663.2:g.119421795C>A | GRCh38 |
| NC_000001.10:g.119964418C>A , CM000663.1:g.119964418C>A | GRCh37 |
| NC_000001.9:g.119765941C>A | NCBI36 |
| NG_013349.1:g.11865C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000198.4:c.308-14C>A MANE Select | NP_000189.1:n.308-14C>A |
| ENST00000369416.4:c.308-14C>A MANE Select | ENSP00000358424.3:n.308-14C>A |
| NM_000198.3:c.308-14C>A | NP_000189.1:n.308-14C>A |
| NM_001166120.1:c.308-14C>A | NP_001159592.1:n.308-14C>A |
| NM_001166120.2:c.308-14C>A | NP_001159592.1:n.308-14C>A |
| ENST00000369416.3:c.308-14C>A | ENSP00000358424.3:n.308-14C>A |
| ENST00000433745.5:c.308-14C>A | ENSP00000388292.1:n.308-14C>A |
| ENST00000448448.2:n.252-14C>A | |
| ENST00000543831.5:c.308-14C>A | ENSP00000445122.1:n.308-14C>A |