Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154230886G>A , CM000685.2:g.154230886G>A | GRCh38 |
| NC_000023.10:g.153496355G>A , CM000685.1:g.153496355G>A | GRCh37 |
| NC_000023.9:g.153149549G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001048181.3:c.984+99G>A MANE Select | NP_001041646.1:n.984+99G>A |
| ENST00000369929.8:c.984+99G>A MANE Select | ENSP00000358945.4:n.984+99G>A |
| NM_001048181.2:c.984+99G>A | NP_001041646.1:n.984+99G>A |
| ENST00000430419.1:c.382+288G>A |