Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176116963G>C , CM000664.2:g.176116963G>C | GRCh38 |
| NC_000002.11:g.176981691G>C , CM000664.1:g.176981691G>C | GRCh37 |
| NC_000002.10:g.176689937G>C | NCBI36 |
| NG_008133.2:g.10200G>C , LRG_246:g.10200G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249501.5:c.130G>C MANE Select | ENSP00000249501.4:p.Gly44Arg | |
| ENST00000249501.4:c.130G>C | ENSP00000249501.4:p.Gly44Arg | |
| ENST00000490088.2:n.570-1991G>C | ||
| ENST00000549469.1:n.617-1991G>C | ||
| NM_002148.3:c.130G>C , LRG_246t1:c.130G>C | NP_002139.2:p.Gly44Arg | |
| NM_002148.4:c.130G>C MANE Select | NP_002139.2:p.Gly44Arg |