Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208124230A>G , CM000664.2:g.208124230A>G | GRCh38 |
| NC_000002.11:g.208988954A>G , CM000664.1:g.208988954A>G | GRCh37 |
| NC_000002.10:g.208697199A>G | NCBI36 |
| NG_008039.1:g.5360T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264376.5:c.134T>C MANE Select | ENSP00000264376.4:p.Leu45Pro | |
| ENST00000264376.4:c.134T>C | ENSP00000264376.4:p.Leu45Pro | |
| NM_006891.3:c.134T>C | NP_008822.2:p.Leu45Pro | |
| NR_038437.1:n.97+5005A>G | ||
| NM_006891.4:c.134T>C MANE Select | NP_008822.2:p.Leu45Pro |