HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48487157G>A , CM000677.2:g.48487157G>A | GRCh38 |
NC_000015.9:g.48779354G>A , CM000677.1:g.48779354G>A | GRCh37 |
NC_000015.8:g.46566646G>A | NCBI36 |
NG_008805.2:g.163632C>T , LRG_778:g.163632C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559133.6:c.3507C>T | ENSP00000453958.2:p.Gly1169= | |
ENST00000674301.2:c.3507C>T | ENSP00000501333.2:p.Gly1169= | |
ENST00000684448.1:n.2181C>T | ||
ENST00000316623.10:c.3507C>T MANE Select | ENSP00000325527.5:p.Gly1169= | |
ENST00000316623.9:c.3507C>T | ENSP00000325527.5:p.Gly1169= | |
ENST00000537463.6:c.637-12507C>T | ENSP00000440294.2:n.637-12507C>T | |
NM_000138.4:c.3507C>T , LRG_778t1:c.3507C>T | NP_000129.3:p.Gly1169= | |
NM_000138.5:c.3507C>T MANE Select | NP_000129.3:p.Gly1169= |