Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624449C>G , CM000679.2:g.41624449C>G | GRCh38 |
| NC_000017.10:g.39780701C>G , CM000679.1:g.39780701C>G | GRCh37 |
| NC_000017.9:g.37034227C>G | NCBI36 |
| NG_008625.1:g.5182G>C | |
| NG_009090.2:g.167264G>C , LRG_401:g.167264G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.61G>C MANE Select | ENSP00000308452.8:p.Gly21Arg | |
| ENST00000311208.12:c.61G>C | ENSP00000308452.8:p.Gly21Arg | |
| ENST00000463128.5:c.-312-243G>C | ENSP00000468672.1:n.-312-243G>C | |
| ENST00000491673.1:n.127G>C | ||
| ENST00000540235.5:c.-145G>C | ENSP00000441751.2:n.-145G>C | |
| ENST00000577817.3:c.16G>C | ENSP00000467418.1:p.Gly6Arg | |
| NM_000422.2:c.61G>C | NP_000413.1:p.Gly21Arg | |
| NM_000422.3:c.61G>C MANE Select | NP_000413.1:p.Gly21Arg |