Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68156382A>G , CM000674.2:g.68156382A>G | GRCh38 |
| NC_000012.11:g.68550162A>G , CM000674.1:g.68550162A>G | GRCh37 |
| NC_000012.10:g.66836429A>G | NCBI36 |
| NG_015840.1:g.8360T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000619.3:c.367-895T>C MANE Select | NP_000610.2:n.367-895T>C |
| ENST00000229135.4:c.367-895T>C MANE Select | ENSP00000229135.3:n.367-895T>C |
| NM_000619.2:c.367-895T>C | NP_000610.2:n.367-895T>C |
| ENST00000229135.3:c.367-895T>C | ENSP00000229135.3:n.367-895T>C |