Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102593431A>G , CM000673.2:g.102593431A>G | GRCh38 |
| NC_000011.9:g.102464162A>G , CM000673.1:g.102464162A>G | GRCh37 |
| NC_000011.8:g.101969372A>G | NCBI36 |
| NG_012151.1:g.36902T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260228.3:c.1247+8T>C MANE Select | ENSP00000260228.2:n.1247+8T>C | |
| ENST00000260228.2:c.1247+8T>C | ENSP00000260228.2:n.1247+8T>C | |
| NM_004771.3:c.1247+8T>C | NP_004762.2:n.1247+8T>C | |
| NM_004771.4:c.1247+8T>C MANE Select | NP_004762.2:n.1247+8T>C |