Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869246C>G , CM000664.2:g.240869246C>G | GRCh38 |
| NC_000002.11:g.241808663C>G , CM000664.1:g.241808663C>G | GRCh37 |
| NC_000002.10:g.241457336C>G | NCBI36 |
| NG_008005.1:g.5502C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000030.3:c.242C>G MANE Select | NP_000021.1:p.Ser81Trp |
| ENST00000307503.4:c.242C>G MANE Select | ENSP00000302620.3:p.Ser81Trp |
| NM_000030.2:c.242C>G | NP_000021.1:p.Ser81Trp |
| ENST00000307503.3:c.242C>G | ENSP00000302620.3:p.Ser81Trp |
| ENST00000472436.1:n.262C>G | |
| XR_924060.1:n.405+987G>C |