Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208146099A>T , CM000664.2:g.208146099A>T | GRCh38 |
| NC_000002.11:g.209010823A>T , CM000664.1:g.209010823A>T | GRCh37 |
| NC_000002.10:g.208719068A>T | NCBI36 |
| NG_028158.1:g.5055T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005210.4:c.9+13T>A MANE Select | NP_005201.2:n.9+13T>A |
| ENST00000260988.5:c.9+13T>A MANE Select | ENSP00000260988.4:n.9+13T>A |
| NM_005210.3:c.9+13T>A | NP_005201.2:n.9+13T>A |
| NR_038437.1:n.221+8920A>T | |
| ENST00000260988.4:c.9+13T>A | ENSP00000260988.4:n.9+13T>A |
| XM_017003402.1:c.9+13T>A | XP_016858891.1:n.9+13T>A |