Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7928074T>C , CM000681.2:g.7928074T>C | GRCh38 |
| NC_000019.9:g.7992959T>C , CM000681.1:g.7992959T>C | GRCh37 |
| NC_000019.8:g.7898959T>C | NCBI36 |
| NG_051180.1:g.20750A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006351.4:c.1128+3A>G MANE Select | NP_006342.2:n.1128+3A>G |
| ENST00000270538.8:c.1128+3A>G MANE Select | ENSP00000270538.2:n.1128+3A>G |
| NM_006351.3:c.1128+3A>G | NP_006342.2:n.1128+3A>G |
| ENST00000270538.7:c.1128+3A>G | ENSP00000270538.2:n.1128+3A>G |
| ENST00000595565.5:c.172-307A>G | ENSP00000469273.1:n.172-307A>G |
| ENST00000595831.5:c.1115+3A>G | |
| ENST00000598481.1:n.337A>G | |
| ENST00000598968.5:n.293+3A>G | |
| ENST00000599650.1:n.552+3A>G | |
| ENST00000599939.1:n.871A>G |