Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177994237G>A , CM000667.2:g.177994237G>A | GRCh38 |
| NC_000005.9:g.177421238G>A , CM000667.1:g.177421238G>A | GRCh37 |
| NC_000005.8:g.177353844G>A | NCBI36 |
| NG_015889.1:g.7006C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006261.5:c.211C>T MANE Select | NP_006252.4:p.Arg71Cys |
| ENST00000308304.2:c.211C>T MANE Select | ENSP00000311290.2:p.Arg71Cys |
| NM_006261.4:c.211C>T | NP_006252.3:p.Arg71Cys |