Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208124234T>A , CM000664.2:g.208124234T>A | GRCh38 |
| NC_000002.11:g.208988958T>A , CM000664.1:g.208988958T>A | GRCh37 |
| NC_000002.10:g.208697203T>A | NCBI36 |
| NG_008039.1:g.5356A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264376.5:c.130A>T MANE Select | ENSP00000264376.4:p.Met44Leu | |
| ENST00000264376.4:c.130A>T | ENSP00000264376.4:p.Met44Leu | |
| NM_006891.3:c.130A>T | NP_008822.2:p.Met44Leu | |
| NR_038437.1:n.97+5009T>A | ||
| NM_006891.4:c.130A>T MANE Select | NP_008822.2:p.Met44Leu |