Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47575218G>T , CM000685.2:g.47575218G>T | GRCh38 |
| NC_000023.10:g.47434617G>T , CM000685.1:g.47434617G>T | GRCh37 |
| NC_000023.9:g.47319561G>T | NCBI36 |
| NG_008437.1:g.49640C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006950.3:c.1215C>A MANE Select | NP_008881.2:p.Leu405= |
| ENST00000295987.13:c.1215C>A MANE Select | ENSP00000295987.7:p.Leu405= |
| NM_133499.2:c.1215C>A | NP_598006.1:p.Leu405= |
| ENST00000295987.11:c.1215C>A | ENSP00000295987.7:p.Leu405= |
| ENST00000340666.4:c.1215C>A | ENSP00000343206.4:p.Leu405= |
| ENST00000340666.5:c.1215C>A | ENSP00000343206.4:p.Leu405= |