Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119728699T>G , CM000673.2:g.119728699T>G | GRCh38 |
| NC_000011.9:g.119599409T>G , CM000673.1:g.119599409T>G | GRCh37 |
| NC_000011.8:g.119104619T>G | NCBI36 |
| NG_013083.1:g.5027A>C | |
| NG_013083.2:g.5027A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002855.5:c.-146A>C MANE Select | NP_002846.3:n.-146A>C |
| ENST00000264025.8:c.-146A>C MANE Select | ENSP00000264025.3:n.-146A>C |
| NM_002855.4:c.-146A>C | NP_002846.3:n.-146A>C |
| NM_203285.1:c.-146A>C | NP_976030.1:n.-146A>C |
| NM_203285.2:c.-146A>C | NP_976030.1:n.-146A>C |
| NM_203286.1:c.-146A>C | NP_976031.1:n.-146A>C |
| NM_203286.2:c.-146A>C | NP_976031.1:n.-146A>C |
| ENST00000264025.7:c.-146A>C | ENSP00000264025.3:n.-146A>C |