Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47842007G>A , CM000681.2:g.47842007G>A | GRCh38 |
| NC_000019.9:g.48345264G>A , CM000681.1:g.48345264G>A | GRCh37 |
| NC_000019.8:g.53037076G>A | NCBI36 |
| NG_008605.1:g.25166G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000554.6:c.*2040G>A MANE Select | NP_000545.1:n.*2040G>A |
| ENST00000221996.12:c.*2040G>A MANE Select | ENSP00000221996.5:n.*2040G>A |
| NM_000554.4:c.*2040G>A | NP_000545.1:n.*2040G>A |
| NM_000554.5:c.*2040G>A | NP_000545.1:n.*2040G>A |
| ENST00000221996.11:c.*2040G>A | ENSP00000221996.5:n.*2040G>A |
| ENST00000539067.5:c.*467-547G>A | ENSP00000445565.1:n.*467-547G>A |
| ENST00000602001.1:n.46-505G>A | |
| ENST00000613299.1:c.*2662G>A | ENSP00000478106.1:n.*2662G>A |