Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.84194816G>A , CM000672.2:g.84194816G>A | GRCh38 |
| NC_000010.10:g.85954572G>A , CM000672.1:g.85954572G>A | GRCh37 |
| NC_000010.9:g.85944552G>A | NCBI36 |
| NG_028034.1:g.5161G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033100.4:c.55+1G>A MANE Select | NP_149091.1:n.55+1G>A |
| ENST00000623527.4:c.55+1G>A MANE Select | ENSP00000485478.1:n.55+1G>A |
| NM_001171971.2:c.55+1G>A | NP_001165442.1:n.55+1G>A |
| NM_001171971.3:c.55+1G>A | NP_001165442.1:n.55+1G>A |
| NM_033100.3:c.55+1G>A | NP_149091.1:n.55+1G>A |
| ENST00000332904.7:c.55+1G>A | ENSP00000331063.3:n.55+1G>A |
| ENST00000623527.3:c.55+1G>A | ENSP00000485478.1:n.55+1G>A |
| XM_011540339.1:c.-325+1G>A | XP_011538641.1:n.-325+1G>A |