Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7934047G>C , CM000681.2:g.7934047G>C | GRCh38 |
| NC_000019.9:g.7998932G>C , CM000681.1:g.7998932G>C | GRCh37 |
| NC_000019.8:g.7904932G>C | NCBI36 |
| NG_051180.1:g.14777C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270538.8:c.543+42C>G MANE Select | ENSP00000270538.2:n.543+42C>G | |
| ENST00000270538.7:c.543+42C>G | ENSP00000270538.2:n.543+42C>G | |
| ENST00000595831.5:c.530+42C>G | ||
| ENST00000595876.5:c.*231+42C>G | ENSP00000471596.1:n.*231+42C>G | |
| ENST00000597926.1:c.447+42C>G | ENSP00000469389.1:n.447+42C>G | |
| ENST00000600748.5:n.528+42C>G | ||
| NM_006351.3:c.543+42C>G | NP_006342.2:n.543+42C>G | |
| NM_006351.4:c.543+42C>G MANE Select | NP_006342.2:n.543+42C>G |