Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667849C= , CM000683.2:g.31667849C= | GRCh38 |
| NC_000021.8:g.33040162C= , CM000683.1:g.33040162C= | GRCh37 |
| NC_000021.7:g.31962033C= | NCBI36 |
| NG_008689.1:g.13228C= , LRG_652:g.13228C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000454.5:c.357+474C= MANE Select | NP_000445.1:n.357+474C= |
| ENST00000270142.11:c.357+474C= MANE Select | ENSP00000270142.7:n.357+474C= |
| NM_000454.4:c.357+474C= , LRG_652t1:c.357+474C= | NP_000445.1:n.357+474C= |
| ENST00000270142.10:c.357+474C= | ENSP00000270142.6:n.357+474C= |
| ENST00000389995.4:c.300+474C= | ENSP00000374645.4:n.300+474C= |
| ENST00000470944.1:n.1285+474C= |