Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.32028543A>G , CM000672.2:g.32028543A>G | GRCh38 |
| NC_000010.10:g.32317471A>G , CM000672.1:g.32317471A>G | GRCh37 |
| NC_000010.9:g.32357477A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004521.3:c.1610T>C MANE Select | NP_004512.1:p.Leu537Pro |
| ENST00000302418.5:c.1610T>C MANE Select | ENSP00000307078.4:p.Leu537Pro |
| NM_004521.2:c.1610T>C | NP_004512.1:p.Leu537Pro |
| ENST00000302418.4:c.1610T>C | ENSP00000307078.4:p.Leu537Pro |
| XM_017016224.2:c.1328T>C | XP_016871713.1:p.Leu443Pro |