Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869300C>G , CM000664.2:g.240869300C>G | GRCh38 |
| NC_000002.11:g.241808717C>G , CM000664.1:g.241808717C>G | GRCh37 |
| NC_000002.10:g.241457390C>G | NCBI36 |
| NG_008005.1:g.5556C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.296C>G MANE Select | ENSP00000302620.3:p.Ser99Cys | |
| ENST00000307503.3:c.296C>G | ENSP00000302620.3:p.Ser99Cys | |
| ENST00000472436.1:n.316C>G | ||
| NM_000030.2:c.296C>G | NP_000021.1:p.Ser99Cys | |
| XR_924060.1:n.405+933G>C | ||
| NM_000030.3:c.296C>G MANE Select | NP_000021.1:p.Ser99Cys |