Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72008783A>C , CM000678.2:g.72008783A>C | GRCh38 |
| NC_000016.9:g.72042682A>C , CM000678.1:g.72042682A>C | GRCh37 |
| NC_000016.8:g.70600183A>C | NCBI36 |
| NG_016271.1:g.5040A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001361.5:c.19A>C MANE Select | NP_001352.2:p.Lys7Gln |
| ENST00000219240.9:c.19A>C MANE Select | ENSP00000219240.4:p.Lys7Gln |
| NM_001361.4:c.19A>C | NP_001352.2:p.Lys7Gln |
| ENST00000219240.8:c.19A>C | ENSP00000219240.4:p.Lys7Gln |
| ENST00000571288.6:c.6A>C | |
| ENST00000572887.5:c.19A>C | ENSP00000461848.1:p.Lys7Gln |
| ENST00000574309.5:c.15A>C | |
| XM_017022990.2:c.-410A>C | XP_016878479.1:n.-410A>C |