Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96285140G>C , CM000664.2:g.96285140G>C | GRCh38 |
| NC_000002.11:g.96950878G>C , CM000664.1:g.96950878G>C | GRCh37 |
| NC_000002.10:g.96314605G>C | NCBI36 |
| NG_016973.1:g.25420C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014014.5:c.4164+40C>G MANE Select | NP_054733.2:n.4164+40C>G |
| ENST00000323853.10:c.4164+40C>G MANE Select | ENSP00000317123.5:n.4164+40C>G |
| NM_014014.4:c.4164+40C>G | NP_054733.2:n.4164+40C>G |
| ENST00000323853.9:c.4164+40C>G | ENSP00000317123.5:n.4164+40C>G |
| ENST00000429650.1:c.-192+40C>G | ENSP00000387870.1:n.-192+40C>G |
| ENST00000480615.1:n.1321C>G |