Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.28920058G>A , CM000668.2:g.28920058G>A | GRCh38 |
| NC_000006.11:g.28887835G>A , CM000668.1:g.28887835G>A | GRCh37 |
| NC_000006.10:g.28995814G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006510.5:c.701C>T MANE Select | NP_006501.1:p.Ala234Val |
| ENST00000377199.4:c.701C>T MANE Select | ENSP00000366404.3:p.Ala234Val |
| NM_006510.4:c.701C>T | NP_006501.1:p.Ala234Val |
| ENST00000377194.7:c.701C>T | ENSP00000366399.3:p.Ala234Val |
| ENST00000377199.3:c.701C>T | ENSP00000366404.3:p.Ala234Val |
| ENST00000481474.5:n.982C>T | |
| ENST00000496091.1:n.126C>T | |
| ENST00000498117.1:n.270C>T |