Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.27322226T>C , CM000663.2:g.27322226T>C | GRCh38 |
| NC_000001.10:g.27648717T>C , CM000663.1:g.27648717T>C | GRCh37 |
| NC_000001.9:g.27521304T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032125.3:c.29T>C MANE Select | NP_115501.2:p.Leu10Pro |
| ENST00000374076.9:c.29T>C MANE Select | ENSP00000363189.4:p.Leu10Pro |
| NM_032125.2:c.29T>C | NP_115501.2:p.Leu10Pro |
| NR_037576.1:n.82T>C | |
| NR_037577.1:n.82T>C | |
| NR_037580.1:n.82T>C | |
| ENST00000374076.8:c.29T>C | ENSP00000363189.4:p.Leu10Pro |
| ENST00000611517.4:c.29T>C | ENSP00000483276.1:p.Leu10Pro |
| XR_001737477.1:n.44T>C |