Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667409C>A , CM000683.2:g.31667409C>A | GRCh38 |
| NC_000021.8:g.33039722C>A , CM000683.1:g.33039722C>A | GRCh37 |
| NC_000021.7:g.31961593C>A | NCBI36 |
| NG_008689.1:g.12788C>A , LRG_652:g.12788C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.357+34C>A MANE Select | ENSP00000270142.7:n.357+34C>A | |
| ENST00000270142.10:c.357+34C>A | ENSP00000270142.6:n.357+34C>A | |
| ENST00000389995.4:c.300+34C>A | ENSP00000374645.4:n.300+34C>A | |
| ENST00000470944.1:n.1285+34C>A | ||
| NM_000454.4:c.357+34C>A , LRG_652t1:c.357+34C>A | NP_000445.1:n.357+34C>A | |
| NM_000454.5:c.357+34C>A MANE Select | NP_000445.1:n.357+34C>A |