Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942861C>G , CM000678.2:g.67942861C>G | GRCh38 |
| NC_000016.9:g.67976764C>G , CM000678.1:g.67976764C>G | GRCh37 |
| NC_000016.8:g.66534265C>G | NCBI36 |
| NG_009778.1:g.6252G>C | |
| NG_033098.1:g.30834G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.427G>C MANE Select | ENSP00000264005.5:p.Gly143Arg | |
| ENST00000264005.9:c.427G>C | ENSP00000264005.5:p.Gly143Arg | |
| ENST00000570369.5:c.155G>C | ||
| ENST00000570980.1:c.211G>C | ENSP00000464651.1:p.Gly71Arg | |
| ENST00000573538.5:c.70G>C | ENSP00000463220.1:p.Gly24Arg | |
| ENST00000573846.1:n.41G>C | ||
| ENST00000575277.1:n.205G>C | ||
| ENST00000575467.5:c.*122G>C | ENSP00000460653.1:n.*122G>C | |
| NM_000229.1:c.427G>C | NP_000220.1:p.Gly143Arg | |
| NM_000229.2:c.427G>C MANE Select | NP_000220.1:p.Gly143Arg |