Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41018046G= , CM000681.2:g.41018046G= | GRCh38 |
| NC_000019.9:g.41523951G= , CM000681.1:g.41523951G= | GRCh37 |
| NC_000019.8:g.46215791G= | NCBI36 |
| NG_007929.1:g.31748G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.*1219G= MANE Select | ENSP00000324648.2:n.*1219G= | |
| ENST00000324071.8:c.*1219G= | ENSP00000324648.2:n.*1219G= | |
| NM_000767.4:c.*1219G= | NP_000758.1:n.*1219G= | |
| XM_011526548.1:c.*1219G= | XP_011524850.1:n.*1219G= | |
| XM_011526549.1:c.*1219G= | XP_011524851.1:n.*1219G= | |
| XM_011526550.1:c.*1219G= | XP_011524852.1:n.*1219G= | |
| NM_000767.5:c.*1219G= MANE Select | NP_000758.1:n.*1219G= |