Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28845493A>G , CM000678.2:g.28845493A>G | GRCh38 |
| NC_000016.9:g.28856814A>G , CM000678.1:g.28856814A>G | GRCh37 |
| NC_000016.8:g.28764315A>G | NCBI36 |
| NG_008964.1:g.5916T>C | |
| NG_029706.2:g.3894A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313511.8:c.248-13T>C MANE Select | ENSP00000322439.3:n.248-13T>C | |
| ENST00000313511.7:c.248-13T>C | ENSP00000322439.3:n.248-13T>C | |
| ENST00000565012.1:c.247+419T>C | ENSP00000455007.1:n.247+419T>C | |
| NM_003321.4:c.248-13T>C | NP_003312.3:n.248-13T>C | |
| XM_011545928.1:c.248-13T>C | XP_011544230.1:n.248-13T>C | |
| NM_001365360.1:c.248-13T>C | NP_001352289.1:n.248-13T>C | |
| NM_003321.5:c.248-13T>C MANE Select | NP_003312.3:n.248-13T>C | |
| NM_001365360.2:c.248-13T>C | NP_001352289.1:n.248-13T>C |