Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31498257G>T , CM000680.2:g.31498257G>T | GRCh38 |
| NC_000018.9:g.29078220G>T , CM000680.1:g.29078220G>T | GRCh37 |
| NC_000018.8:g.27332218G>T | NCBI36 |
| NG_007072.3:g.5016G>T , LRG_397:g.5016G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001943.5:c.6G>T MANE Select | NP_001934.2:p.Ala2= |
| ENST00000261590.13:c.6G>T MANE Select | ENSP00000261590.8:p.Ala2= |
| NM_001943.3:c.6G>T , LRG_397t1:c.6G>T | NP_001934.2:p.Ala2= |
| NM_001943.4:c.6G>T | NP_001934.2:p.Ala2= |
| ENST00000261590.12:c.6G>T | ENSP00000261590.8:p.Ala2= |
| ENST00000585206.1:c.6G>T | ENSP00000462503.1:p.Ala2= |
| ENST00000682241.2:c.6G>T | ENSP00000507600.2:p.Ala2= |
| ENST00000683654.1:c.6G>T | ENSP00000506971.1:p.Ala2= |