Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189008987T>A , CM000664.2:g.189008987T>A | GRCh38 |
| NC_000002.11:g.189873713T>A , CM000664.1:g.189873713T>A | GRCh37 |
| NC_000002.10:g.189581958T>A | NCBI36 |
| NG_007404.1:g.39615T>A , LRG_3:g.39615T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3490T>A | ENSP00000415346.2:p.Cys1164Ser | |
| ENST00000304636.9:c.3589T>A MANE Select | ENSP00000304408.4:p.Cys1197Ser | |
| ENST00000304636.7:c.3589T>A | ENSP00000304408.3:p.Cys1197Ser | |
| ENST00000317840.9:c.2680T>A | ENSP00000315243.6:p.Cys894Ser | |
| ENST00000487010.1:n.686T>A | ||
| NM_000090.3:c.3589T>A , LRG_3t1:c.3589T>A | NP_000081.1:p.Cys1197Ser | |
| NM_000090.4:c.3589T>A MANE Select | NP_000081.2:p.Cys1197Ser |