Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44381029T>G , CM000679.2:g.44381029T>G | GRCh38 |
| NC_000017.10:g.42458397T>G , CM000679.1:g.42458397T>G | GRCh37 |
| NC_000017.9:g.39813923T>G | NCBI36 |
| NG_008331.1:g.13477A>C , LRG_479:g.13477A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.1243A>C MANE Select | ENSP00000262407.5:p.Ser415Arg | |
| ENST00000648408.1:c.674A>C | ||
| ENST00000262407.5:c.1243A>C | ENSP00000262407.5:p.Ser415Arg | |
| ENST00000592226.5:n.483A>C | ||
| ENST00000592462.5:n.38A>C | ||
| NM_000419.3:c.1243A>C , LRG_479t1:c.1243A>C | NP_000410.2:p.Ser415Arg | |
| XM_011524749.1:c.1243A>C | XP_011523051.1:p.Ser415Arg | |
| XM_011524750.1:c.1243A>C | XP_011523052.1:p.Ser415Arg | |
| NM_000419.4:c.1243A>C | NP_000410.2:p.Ser415Arg | |
| NM_000419.5:c.1243A>C MANE Select | NP_000410.2:p.Ser415Arg |