Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177996193T>A , CM000667.2:g.177996193T>A | GRCh38 |
| NC_000005.9:g.177423194T>A , CM000667.1:g.177423194T>A | GRCh37 |
| NC_000005.8:g.177355800T>A | NCBI36 |
| NG_015889.1:g.5050A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.-260A>T MANE Select | ENSP00000311290.2:n.-260A>T | |
| NM_006261.4:c.-260A>T | NP_006252.3:n.-260A>T | |
| NM_006261.5:c.-260A>T MANE Select | NP_006252.4:n.-260A>T |