Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136057025G>A , CM000667.2:g.136057025G>A | GRCh38 |
| NC_000005.9:g.135392714G>A , CM000667.1:g.135392714G>A | GRCh37 |
| NC_000005.8:g.135420613G>A | NCBI36 |
| NG_012646.1:g.33131G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.1678+230G>A MANE Select | ENSP00000416330.2:n.1678+230G>A | |
| ENST00000442011.6:c.1678+230G>A | ENSP00000416330.2:n.1678+230G>A | |
| ENST00000506699.5:n.2195+230G>A | ||
| ENST00000507018.5:c.1656+230G>A | ||
| ENST00000509485.5:c.675+230G>A | ||
| ENST00000514242.5:n.449+230G>A | ||
| ENST00000514554.5:c.830+230G>A | ||
| NM_000358.2:c.1678+230G>A | NP_000349.1:n.1678+230G>A | |
| NM_000358.3:c.1678+230G>A MANE Select | NP_000349.1:n.1678+230G>A |