Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.226796327T>G , CM000664.2:g.226796327T>G | GRCh38 |
| NC_000002.11:g.227661043T>G , CM000664.1:g.227661043T>G | GRCh37 |
| NC_000002.10:g.227369287T>G | NCBI36 |
| NG_015830.1:g.7464A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005544.3:c.2412A>C MANE Select | NP_005535.1:p.Ala804= |
| ENST00000305123.6:c.2412A>C MANE Select | ENSP00000304895.4:p.Ala804= |
| NM_005544.2:c.2412A>C | NP_005535.1:p.Ala804= |
| ENST00000305123.5:c.2412A>C | ENSP00000304895.4:p.Ala804= |