Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161589692G>C , CM000663.2:g.161589692G>C | GRCh38 |
| NC_000001.10:g.161559482G>C , CM000663.1:g.161559482G>C | GRCh37 |
| NC_000001.9:g.159826106G>C | NCBI36 |
| NG_011982.1:g.13354G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699402.1:c.41-40661C>G | ENSP00000514363.1:n.41-40661C>G | |
| ENST00000699403.1:c.61+40676C>G | ENSP00000514364.1:n.61+40676C>G | |
| ENST00000465075.6:n.356G>C | ||
| ENST00000466542.6:c.264G>C | ENSP00000426627.1:p.Gly88= | |
| ENST00000473530.6:n.445G>C | ||
| ENST00000473712.6:n.286G>C | ||
| ENST00000482226.2:n.243G>C | ||
| ENST00000496692.6:n.360G>C | ||
| ENST00000502411.5:n.561G>C | ||
| ENST00000543859.5:c.261G>C | ENSP00000444663.2:p.Gly87= | |
| ENST00000611236.1:c.261G>C | ENSP00000480953.1:p.Gly87= | |
| NR_047648.1:n.363G>C |