Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524773A>C , CM000680.2:g.31524773A>C | GRCh38 |
| NC_000018.9:g.29104736A>C , CM000680.1:g.29104736A>C | GRCh37 |
| NC_000018.8:g.27358734A>C | NCBI36 |
| NG_007072.3:g.31532A>C , LRG_397:g.31532A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682087.2:n.730A>C | ||
| ENST00000683614.2:n.730A>C | ||
| ENST00000682087.1:c.730A>C | ||
| ENST00000683614.1:c.730A>C | ||
| ENST00000261590.13:c.899A>C MANE Select | ENSP00000261590.8:p.Glu300Ala | |
| ENST00000261590.12:c.899A>C | ENSP00000261590.8:p.Glu300Ala | |
| NM_001943.3:c.899A>C , LRG_397t1:c.899A>C | NP_001934.2:p.Glu300Ala | |
| NM_001943.4:c.899A>C | NP_001934.2:p.Glu300Ala | |
| XM_024451095.1:c.365A>C | XP_024306863.1:p.Glu122Ala | |
| NM_001943.5:c.899A>C MANE Select | NP_001934.2:p.Glu300Ala |