Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31498273G>C , CM000680.2:g.31498273G>C | GRCh38 |
| NC_000018.9:g.29078236G>C , CM000680.1:g.29078236G>C | GRCh37 |
| NC_000018.8:g.27332234G>C | NCBI36 |
| NG_007072.3:g.5032G>C , LRG_397:g.5032G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001943.5:c.22G>C MANE Select | NP_001934.2:p.Ala8Pro |
| ENST00000261590.13:c.22G>C MANE Select | ENSP00000261590.8:p.Ala8Pro |
| NM_001943.3:c.22G>C , LRG_397t1:c.22G>C | NP_001934.2:p.Ala8Pro |
| NM_001943.4:c.22G>C | NP_001934.2:p.Ala8Pro |
| ENST00000261590.12:c.22G>C | ENSP00000261590.8:p.Ala8Pro |
| ENST00000585206.1:c.22G>C | ENSP00000462503.1:p.Ala8Pro |
| ENST00000682241.2:c.22G>C | ENSP00000507600.2:p.Ala8Pro |
| ENST00000683654.1:c.22G>C | ENSP00000506971.1:p.Ala8Pro |