Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177994358A>G , CM000667.2:g.177994358A>G | GRCh38 |
| NC_000005.9:g.177421359A>G , CM000667.1:g.177421359A>G | GRCh37 |
| NC_000005.8:g.177353965A>G | NCBI36 |
| NG_015889.1:g.6885T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006261.5:c.110-20T>C MANE Select | NP_006252.4:n.110-20T>C |
| ENST00000308304.2:c.110-20T>C MANE Select | ENSP00000311290.2:n.110-20T>C |
| NM_006261.4:c.110-20T>C | NP_006252.3:n.110-20T>C |