Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44296367C= , CM000683.2:g.44296367C= | GRCh38 |
| NC_000021.8:g.45716250C= , CM000683.1:g.45716250C= | GRCh37 |
| NC_000021.7:g.44540678C= | NCBI36 |
| NG_009556.1:g.15488C= , LRG_18:g.15488C= | |
| NG_034033.1:g.1334C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000291582.6:c.1504-16C= MANE Select | ENSP00000291582.5:n.1504-16C= | |
| ENST00000291582.5:c.1504-16C= | ENSP00000291582.5:n.1504-16C= | |
| ENST00000337909.5:n.965-16C= | ||
| ENST00000397994.8:n.883-16C= | ||
| ENST00000527919.5:n.2263-16C= | ||
| ENST00000530812.5:n.3251-16C= | ||
| NM_000383.3:c.1504-16C= | NP_000374.1:n.1504-16C= | |
| XM_011529551.1:c.1501-16C= | XP_011527853.1:n.1501-16C= | |
| NM_000383.4:c.1504-16C= MANE Select | NP_000374.1:n.1504-16C= |