Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80675244T>C , CM000667.2:g.80675244T>C | GRCh38 |
| NC_000005.9:g.79971063T>C , CM000667.1:g.79971063T>C | GRCh37 |
| NC_000005.8:g.80006819T>C | NCBI36 |
| NG_016607.1:g.25770T>C | |
| NG_016607.2:g.25770T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265081.7:c.1173+116T>C MANE Select | ENSP00000265081.6:n.1173+116T>C | |
| ENST00000658259.1:c.1005+116T>C | ENSP00000499617.1:n.1005+116T>C | |
| ENST00000667069.1:c.1173+116T>C | ENSP00000499502.1:n.1173+116T>C | |
| ENST00000670357.1:c.1173+116T>C | ENSP00000499791.1:n.1173+116T>C | |
| ENST00000265081.6:c.1173+116T>C | ENSP00000265081.6:n.1173+116T>C | |
| NM_002439.4:c.1173+116T>C | NP_002430.3:n.1173+116T>C | |
| NM_002439.5:c.1173+116T>C MANE Select | NP_002430.3:n.1173+116T>C |