Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6110970T>G , CM000674.2:g.6110970T>G | GRCh38 |
| NC_000012.11:g.6220136T>G , CM000674.1:g.6220136T>G | GRCh37 |
| NC_000012.10:g.6090397T>G | NCBI36 |
| NG_009072.1:g.18701A>C | |
| NG_009072.2:g.18701A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.221-2A>C MANE Select | NP_000543.3:n.221-2A>C |
| ENST00000261405.10:c.221-2A>C MANE Select | ENSP00000261405.5:n.221-2A>C |
| NM_000552.3:c.221-2A>C | NP_000543.2:n.221-2A>C |
| NM_000552.4:c.221-2A>C | NP_000543.2:n.221-2A>C |
| ENST00000261405.9:c.221-2A>C | ENSP00000261405.5:n.221-2A>C |
| ENST00000321023.5:c.*280-2A>C | ENSP00000461331.1:n.*280-2A>C |
| ENST00000538635.5:n.250-2A>C |