Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746164C>G , CM000666.2:g.41746164C>G | GRCh38 |
| NC_000004.11:g.41748181C>G , CM000666.1:g.41748181C>G | GRCh37 |
| NC_000004.10:g.41442938C>G | NCBI36 |
| NG_008243.1:g.7807G>C , LRG_513:g.7807G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.588G>C MANE Select | ENSP00000226382.2:p.Gly196= | |
| ENST00000226382.3:c.588G>C | ENSP00000226382.2:p.Gly196= | |
| ENST00000510424.2:n.409G>C | ||
| NM_003924.3:c.588G>C , LRG_513t1:c.588G>C | NP_003915.2:p.Gly196= | |
| NM_003924.4:c.588G>C MANE Select | NP_003915.2:p.Gly196= |