HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255837G>C , CM000671.2:g.133255837G>C | GRCh38 |
NC_000009.11:g.136131224G>C , CM000671.1:g.136131224G>C | GRCh37 |
NC_000009.10:g.135121045G>C | NCBI36 |
NG_006669.1:g.21831C>G | |
NG_006669.2:g.24379C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.923C>G | ||
ENST00000647353.1:n.54-4685C>G | ||
ENST00000679909.1:c.28+19325C>G | ENSP00000506089.1:n.28+19325C>G | |
ENST00000453660.3:n.905C>G | ||
ENST00000538324.2:c.891C>G | ENSP00000483018.1:p.Ala297= | |
ENST00000611156.4:c.891C>G | ENSP00000483265.1:p.Ala297= | |
NM_020469.2:c.894C>G | NP_065202.2:p.Ala298= | |
NM_020469.3:c.894C>G | NP_065202.2:p.Ala298= |