Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80854317G>A , CM000667.2:g.80854317G>A | GRCh38 |
| NC_000005.9:g.80150136G>A , CM000667.1:g.80150136G>A | GRCh37 |
| NC_000005.8:g.80185892G>A | NCBI36 |
| NG_016607.1:g.204843G>A | |
| NG_016607.2:g.204843G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002439.5:c.3000+1G>A MANE Select | NP_002430.3:n.3000+1G>A |
| ENST00000265081.7:c.3000+1G>A MANE Select | ENSP00000265081.6:n.3000+1G>A |
| NM_002439.4:c.3000+1G>A | NP_002430.3:n.3000+1G>A |
| ENST00000265081.6:c.3000+1G>A | ENSP00000265081.6:n.3000+1G>A |
| ENST00000658259.1:c.2832+1G>A | ENSP00000499617.1:n.2832+1G>A |
| ENST00000659302.1:c.408+1G>A | |
| ENST00000667069.1:c.2805+1G>A | ENSP00000499502.1:n.2805+1G>A |
| ENST00000670357.1:c.*324+1G>A | ENSP00000499791.1:n.*324+1G>A |