Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31531003A>T , CM000680.2:g.31531003A>T | GRCh38 |
| NC_000018.9:g.29110966A>T , CM000680.1:g.29110966A>T | GRCh37 |
| NC_000018.8:g.27364964A>T | NCBI36 |
| NG_007072.3:g.37762A>T , LRG_397:g.37762A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683614.2:n.862A>T | ||
| ENST00000683614.1:c.862A>T | ||
| ENST00000261590.13:c.1031A>T MANE Select | ENSP00000261590.8:p.Glu344Val | |
| ENST00000261590.12:c.1031A>T | ENSP00000261590.8:p.Glu344Val | |
| NM_001943.3:c.1031A>T , LRG_397t1:c.1031A>T | NP_001934.2:p.Glu344Val | |
| NM_001943.4:c.1031A>T | NP_001934.2:p.Glu344Val | |
| XM_024451095.1:c.497A>T | XP_024306863.1:p.Glu166Val | |
| NM_001943.5:c.1031A>T MANE Select | NP_001934.2:p.Glu344Val |