Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10539234T>G , CM000678.2:g.10539234T>G | GRCh38 |
| NC_000016.9:g.10633091T>G , CM000678.1:g.10633091T>G | GRCh37 |
| NC_000016.8:g.10540592T>G | NCBI36 |
| NG_042058.1:g.46483A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359543.8:c.170-1160A>C MANE Select | ENSP00000352540.3:n.170-1160A>C | |
| ENST00000359543.7:c.170-1160A>C | ENSP00000352540.3:n.170-1160A>C | |
| ENST00000536829.1:c.170-1160A>C | ENSP00000445712.1:n.170-1160A>C | |
| NM_001424.4:c.170-1160A>C | NP_001415.1:n.170-1160A>C | |
| NM_001424.5:c.170-1160A>C | NP_001415.1:n.170-1160A>C | |
| XM_006720864.2:c.170-1160A>C | XP_006720927.1:n.170-1160A>C | |
| XM_006720864.3:c.170-1160A>C | XP_006720927.1:n.170-1160A>C | |
| NM_001424.6:c.170-1160A>C MANE Select | NP_001415.1:n.170-1160A>C |