HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48430735A>G , CM000677.2:g.48430735A>G | GRCh38 |
NC_000015.9:g.48722932A>G , CM000677.1:g.48722932A>G | GRCh37 |
NC_000015.8:g.46510224A>G | NCBI36 |
NG_008805.2:g.220054T>C , LRG_778:g.220054T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.6807T>C | ENSP00000453958.2:p.Ile2269= | |
ENST00000674301.2:c.*258T>C | ENSP00000501333.2:n.*258T>C | |
ENST00000682170.1:n.416T>C | ||
ENST00000316623.10:c.6807T>C MANE Select | ENSP00000325527.5:p.Ile2269= | |
ENST00000674301.1:c.1911T>C | ENSP00000501333.1:n.1911T>C | |
ENST00000316623.9:c.6807T>C | ENSP00000325527.5:p.Ile2269= | |
ENST00000559133.5:c.2114T>C | ||
ENST00000560720.1:n.94T>C | ||
NM_000138.4:c.6807T>C , LRG_778t1:c.6807T>C | NP_000129.3:p.Ile2269= | |
NM_000138.5:c.6807T>C MANE Select | NP_000129.3:p.Ile2269= |