Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7670411G= , CM000681.2:g.7670411G= | GRCh38 |
| NC_000019.9:g.7735297G= , CM000681.1:g.7735297G= | GRCh37 |
| NC_000019.8:g.7641297G= | NCBI36 |
| NG_023447.1:g.6326G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020415.4:c.*62G= MANE Select | NP_065148.1:n.*62G= |
| ENST00000221515.6:c.*62G= MANE Select | ENSP00000221515.1:n.*62G= |
| NM_001193374.1:c.*62G= | NP_001180303.1:n.*62G= |
| NM_001193374.2:c.*62G= | NP_001180303.1:n.*62G= |
| NM_001385725.1:c.*62G= | NP_001372654.1:n.*62G= |
| NM_001385726.1:c.*62G= | NP_001372655.1:n.*62G= |
| NM_001385727.1:c.*62G= | NP_001372656.1:n.*62G= |
| NM_020415.3:c.*62G= | NP_065148.1:n.*62G= |
| ENST00000221515.5:c.*62G= | ENSP00000221515.1:n.*62G= |
| ENST00000629642.1:c.*62G= | ENSP00000485998.1:n.*62G= |