Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49451503T>G , CM000668.2:g.49451503T>G | GRCh38 |
| NC_000006.11:g.49419216T>G , CM000668.1:g.49419216T>G | GRCh37 |
| NC_000006.10:g.49527175T>G | NCBI36 |
| NG_007100.1:g.16637A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000255.4:c.1295A>C MANE Select | NP_000246.2:p.Glu432Ala |
| ENST00000274813.4:c.1295A>C MANE Select | ENSP00000274813.3:p.Glu432Ala |
| NM_000255.3:c.1295A>C | NP_000246.2:p.Glu432Ala |
| ENST00000274813.3:c.1295A>C | ENSP00000274813.3:p.Glu432Ala |
| XM_005249143.2:c.1295A>C | XP_005249200.1:p.Glu432Ala |
| XM_005249143.3:c.1295A>C | XP_005249200.1:p.Glu432Ala |