Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137567789C>A , CM000685.2:g.137567789C>A | GRCh38 |
| NC_000023.10:g.136649948C>A , CM000685.1:g.136649948C>A | GRCh37 |
| NC_000023.9:g.136477614C>A | NCBI36 |
| NG_008115.1:g.6603C>A | |
| NG_008115.2:g.6663C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.1060+38C>A MANE Select | ENSP00000287538.5:n.1060+38C>A | |
| ENST00000287538.9:c.1060+38C>A | ENSP00000287538.5:n.1060+38C>A | |
| ENST00000370606.3:c.1060+38C>A | ENSP00000359638.3:n.1060+38C>A | |
| NM_003413.3:c.1060+38C>A | NP_003404.1:n.1060+38C>A | |
| NM_001330661.1:c.1060+38C>A | NP_001317590.1:n.1060+38C>A | |
| NM_003413.4:c.1060+38C>A MANE Select | NP_003404.1:n.1060+38C>A |