Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44286140T>C , CM000683.2:g.44286140T>C | GRCh38 |
| NC_000021.8:g.45706023T>C , CM000683.1:g.45706023T>C | GRCh37 |
| NC_000021.7:g.44530451T>C | NCBI36 |
| NG_009556.1:g.5261T>C , LRG_18:g.5261T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.132+2T>C MANE Select | NP_000374.1:n.132+2T>C |
| ENST00000291582.6:c.132+2T>C MANE Select | ENSP00000291582.5:n.132+2T>C |
| NM_000383.3:c.132+2T>C | NP_000374.1:n.132+2T>C |
| ENST00000291582.5:c.132+2T>C | ENSP00000291582.5:n.132+2T>C |
| ENST00000527919.5:n.293+2T>C | |
| ENST00000530812.5:n.301+2T>C | |
| XM_011529551.1:c.132+2T>C | XP_011527853.1:n.132+2T>C |