Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47840085C>A , CM000681.2:g.47840085C>A | GRCh38 |
| NC_000019.9:g.48343342C>A , CM000681.1:g.48343342C>A | GRCh37 |
| NC_000019.8:g.53035154C>A | NCBI36 |
| NG_008605.1:g.23244C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000554.6:c.*118C>A MANE Select | NP_000545.1:n.*118C>A |
| ENST00000221996.12:c.*118C>A MANE Select | ENSP00000221996.5:n.*118C>A |
| NM_000554.4:c.*118C>A | NP_000545.1:n.*118C>A |
| NM_000554.5:c.*118C>A | NP_000545.1:n.*118C>A |
| ENST00000221996.11:c.*118C>A | ENSP00000221996.5:n.*118C>A |
| ENST00000539067.5:c.*118C>A | ENSP00000445565.1:n.*118C>A |
| ENST00000613299.1:c.*740C>A | ENSP00000478106.1:n.*740C>A |