Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144442240C>T , CM000670.2:g.144442240C>T | GRCh38 |
| NC_000008.10:g.145667623C>T , CM000670.1:g.145667623C>T | GRCh37 |
| NC_000008.9:g.145638431C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013432.5:c.750+1G>A MANE Select | NP_038460.4:n.750+1G>A |
| ENST00000409379.8:c.750+1G>A MANE Select | ENSP00000386239.3:n.750+1G>A |
| NM_013432.4:c.750+1G>A | NP_038460.4:n.750+1G>A |
| ENST00000409379.7:c.750+1G>A | ENSP00000386239.3:n.750+1G>A |
| ENST00000497613.2:n.617G>A | |
| ENST00000613741.1:c.230-45G>A | ENSP00000484162.1:n.230-45G>A |
| XM_011517047.1:c.750+1G>A | XP_011515349.1:n.750+1G>A |
| XM_011517050.1:c.750+1G>A | XP_011515352.1:n.750+1G>A |
| XM_011517050.2:c.750+1G>A | XP_011515352.1:n.750+1G>A |