Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6123142C>G , CM000674.2:g.6123142C>G | GRCh38 |
| NC_000012.11:g.6232308C>G , CM000674.1:g.6232308C>G | GRCh37 |
| NC_000012.10:g.6102569C>G | NCBI36 |
| NG_009072.1:g.6529G>C | |
| NG_009072.2:g.6529G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.55G>C MANE Select | ENSP00000261405.5:p.Gly19Arg | |
| ENST00000261405.9:c.55G>C | ENSP00000261405.5:p.Gly19Arg | |
| ENST00000321023.5:c.55G>C | ENSP00000461331.1:p.Glu19Gln | |
| ENST00000538563.1:c.55G>C | ENSP00000459134.1:p.Glu19Gln | |
| ENST00000538635.5:n.84G>C | ||
| ENST00000540192.1:n.300G>C | ||
| ENST00000545906.1:n.309G>C | ||
| NM_000552.3:c.55G>C | NP_000543.2:p.Gly19Arg | |
| NM_000552.4:c.55G>C | NP_000543.2:p.Gly19Arg | |
| NM_000552.5:c.55G>C MANE Select | NP_000543.3:p.Gly19Arg |