Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.75135918A>G , CM000664.2:g.75135918A>G | GRCh38 |
| NC_000002.11:g.75363044A>G , CM000664.1:g.75363044A>G | GRCh37 |
| NC_000002.10:g.75216552A>G | NCBI36 |
| NG_029522.1:g.68602T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001058.4:c.390-15150T>C MANE Select | NP_001049.1:n.390-15150T>C |
| ENST00000305249.10:c.390-15150T>C MANE Select | ENSP00000303522.4:n.390-15150T>C |
| NM_001058.3:c.390-15150T>C | NP_001049.1:n.390-15150T>C |
| NM_015727.2:c.390-15150T>C | NP_056542.1:n.390-15150T>C |
| NM_015727.3:c.390-15150T>C | NP_056542.1:n.390-15150T>C |
| ENST00000305249.9:c.390-15150T>C | ENSP00000303522.4:n.390-15150T>C |
| ENST00000409848.3:c.390-15150T>C | ENSP00000386448.3:n.390-15150T>C |