Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562900G>A , CM000682.2:g.57562900G>A | GRCh38 |
| NC_000020.10:g.56137956G>A , CM000682.1:g.56137956G>A | GRCh37 |
| NC_000020.9:g.55571362G>A | NCBI36 |
| NG_008205.1:g.6820G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.610+1G>A MANE Select | ENSP00000319814.4:n.610+1G>A | |
| ENST00000319441.5:c.610+1G>A | ENSP00000319814.4:n.610+1G>A | |
| ENST00000467047.1:n.1821G>A | ||
| ENST00000470051.1:n.67G>A | ||
| ENST00000498194.1:n.552+1G>A | ||
| NM_002591.3:c.610+1G>A | NP_002582.3:n.610+1G>A | |
| XM_011528839.1:c.214+1G>A | XP_011527141.1:n.214+1G>A | |
| XM_024451888.1:c.214+1G>A | XP_024307656.1:n.214+1G>A | |
| NM_002591.4:c.610+1G>A MANE Select | NP_002582.3:n.610+1G>A |