Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55044009A>C , CM000663.2:g.55044009A>C | GRCh38 |
| NC_000001.10:g.55509682A>C , CM000663.1:g.55509682A>C | GRCh37 |
| NC_000001.9:g.55282270A>C | NCBI36 |
| NG_009061.1:g.9463A>C , LRG_275:g.9463A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.374A>C | ENSP00000501161.2:p.Lys125Thr | |
| ENST00000710286.1:c.731A>C | ENSP00000518176.1:p.Lys244Thr | |
| ENST00000673662.1:n.44A>C | ||
| ENST00000673726.1:c.374A>C | ENSP00000501004.1:p.Lys125Thr | |
| ENST00000673903.1:c.-2A>C | ENSP00000501257.1:n.-2A>C | |
| ENST00000302118.5:c.374A>C MANE Select | ENSP00000303208.5:p.Lys125Thr | |
| NM_174936.3:c.374A>C , LRG_275t1:c.374A>C | NP_777596.2:p.Lys125Thr | |
| NR_110451.1:n.182+3606A>C | ||
| NM_174936.4:c.374A>C MANE Select | NP_777596.2:p.Lys125Thr | |
| NR_110451.2:n.182+3606A>C |