Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18672032G>A , CM000685.2:g.18672032G>A | GRCh38 |
| NC_000023.10:g.18690152G>A , CM000685.1:g.18690152G>A | GRCh37 |
| NC_000023.9:g.18600073G>A | NCBI36 |
| NG_008659.3:g.10417C>T , LRG_702:g.10417C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000330.4:c.37C>T MANE Select | NP_000321.1:p.Leu13Phe |
| ENST00000379984.4:c.37C>T MANE Select | ENSP00000369320.3:p.Leu13Phe |
| NM_000330.3:c.37C>T , LRG_702t1:c.37C>T | NP_000321.1:p.Leu13Phe |
| ENST00000379984.3:c.37C>T | ENSP00000369320.3:p.Leu13Phe |