Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28844692G>A , CM000678.2:g.28844692G>A | GRCh38 |
| NC_000016.9:g.28856013G>A , CM000678.1:g.28856013G>A | GRCh37 |
| NC_000016.8:g.28763514G>A | NCBI36 |
| NG_008964.1:g.6717C>T | |
| NG_029706.2:g.3093G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003321.5:c.684+6C>T MANE Select | NP_003312.3:n.684+6C>T |
| ENST00000313511.8:c.684+6C>T MANE Select | ENSP00000322439.3:n.684+6C>T |
| NM_001365360.1:c.684+6C>T | NP_001352289.1:n.684+6C>T |
| NM_001365360.2:c.684+6C>T | NP_001352289.1:n.684+6C>T |
| NM_003321.4:c.684+6C>T | NP_003312.3:n.684+6C>T |
| ENST00000313511.7:c.684+6C>T | ENSP00000322439.3:n.684+6C>T |
| ENST00000561644.1:n.228C>T | |
| ENST00000565012.1:c.*211+6C>T | ENSP00000455007.1:n.*211+6C>T |
| XM_011545928.1:c.684+6C>T | XP_011544230.1:n.684+6C>T |