Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137570559A>G , CM000685.2:g.137570559A>G | GRCh38 |
| NC_000023.10:g.136652718A>G , CM000685.1:g.136652718A>G | GRCh37 |
| NC_000023.9:g.136480384A>G | NCBI36 |
| NG_008115.1:g.9373A>G | |
| NG_008115.2:g.9433A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003413.4:c.*489A>G MANE Select | NP_003404.1:n.*489A>G |
| ENST00000287538.10:c.*489A>G MANE Select | ENSP00000287538.5:n.*489A>G |
| NM_001330661.1:c.1224+1494A>G | NP_001317590.1:n.1224+1494A>G |
| NM_003413.3:c.*489A>G | NP_003404.1:n.*489A>G |
| ENST00000287538.9:c.*489A>G | ENSP00000287538.5:n.*489A>G |
| ENST00000370606.3:c.1224+1494A>G | ENSP00000359638.3:n.1224+1494A>G |