Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119421808G>C , CM000663.2:g.119421808G>C | GRCh38 |
| NC_000001.10:g.119964431G>C , CM000663.1:g.119964431G>C | GRCh37 |
| NC_000001.9:g.119765954G>C | NCBI36 |
| NG_013349.1:g.11878G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000198.4:c.308-1G>C MANE Select | NP_000189.1:n.308-1G>C |
| ENST00000369416.4:c.308-1G>C MANE Select | ENSP00000358424.3:n.308-1G>C |
| NM_000198.3:c.308-1G>C | NP_000189.1:n.308-1G>C |
| NM_001166120.1:c.308-1G>C | NP_001159592.1:n.308-1G>C |
| NM_001166120.2:c.308-1G>C | NP_001159592.1:n.308-1G>C |
| ENST00000369416.3:c.308-1G>C | ENSP00000358424.3:n.308-1G>C |
| ENST00000433745.5:c.308-1G>C | ENSP00000388292.1:n.308-1G>C |
| ENST00000448448.2:n.252-1G>C | |
| ENST00000543831.5:c.308-1G>C | ENSP00000445122.1:n.308-1G>C |