HGVS | Genome Assembly |
---|---|
NC_000017.11:g.73193285C>G , CM000679.2:g.73193285C>G | GRCh38 |
NC_000017.10:g.71189424C>G , CM000679.1:g.71189424C>G | GRCh37 |
NC_000017.9:g.68701019C>G | NCBI36 |
NG_008971.1:g.5252C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000299886.9:c.216C>G MANE Select | ENSP00000299886.4:p.Cys72Trp | |
ENST00000299886.8:c.216C>G | ENSP00000299886.4:p.Cys72Trp | |
ENST00000438720.7:c.214C>G | ||
ENST00000582587.2:c.193C>G | ||
ENST00000618996.4:c.216C>G | ENSP00000479450.1:p.Cys72Trp | |
NM_018714.2:c.216C>G | NP_061184.1:p.Cys72Trp | |
NM_018714.3:c.216C>G MANE Select | NP_061184.1:p.Cys72Trp |