Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151397335G>C , CM000685.2:g.151397335G>C | GRCh38 |
| NC_000023.10:g.150565807G>C , CM000685.1:g.150565807G>C | GRCh37 |
| NC_000023.9:g.150316465G>C | NCBI36 |
| NG_016761.1:g.5151G>C , LRG_860:g.5151G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001017980.4:c.27G>C MANE Select | NP_001017980.1:p.Leu9= |
| ENST00000330374.7:c.27G>C MANE Select | ENSP00000333255.6:p.Leu9= |
| NM_001017980.3:c.27G>C , LRG_860t1:c.27G>C | NP_001017980.1:p.Leu9= |
| NM_001363810.1:c.218+278G>C | NP_001350739.1:n.218+278G>C |
| ENST00000330374.6:c.27G>C | ENSP00000333255.6:p.Leu9= |
| ENST00000370361.5:c.218+278G>C | ENSP00000359386.1:n.218+278G>C |
| ENST00000477649.1:n.133+688G>C | |
| XM_011531125.1:c.218+278G>C | XP_011529427.1:n.218+278G>C |