Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28846059G>C , CM000678.2:g.28846059G>C | GRCh38 |
| NC_000016.9:g.28857380G>C , CM000678.1:g.28857380G>C | GRCh37 |
| NC_000016.8:g.28764881G>C | NCBI36 |
| NG_008964.1:g.5350C>G | |
| NG_029706.2:g.4460G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003321.5:c.100C>G MANE Select | NP_003312.3:p.Leu34Val |
| ENST00000313511.8:c.100C>G MANE Select | ENSP00000322439.3:p.Leu34Val |
| NM_001365360.1:c.100C>G | NP_001352289.1:p.Leu34Val |
| NM_001365360.2:c.100C>G | NP_001352289.1:p.Leu34Val |
| NM_003321.4:c.100C>G | NP_003312.3:p.Leu34Val |
| ENST00000313511.7:c.100C>G | ENSP00000322439.3:p.Leu34Val |
| ENST00000565012.1:c.100C>G | ENSP00000455007.1:p.Leu34Val |
| XM_011545928.1:c.100C>G | XP_011544230.1:p.Leu34Val |