HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48485414C>T , CM000677.2:g.48485414C>T | GRCh38 |
NC_000015.9:g.48777611C>T , CM000677.1:g.48777611C>T | GRCh37 |
NC_000015.8:g.46564903C>T | NCBI36 |
NG_008805.2:g.165375G>A , LRG_778:g.165375G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.3672G>A | ENSP00000453958.2:p.Gln1224= | |
ENST00000674301.2:c.3672G>A | ENSP00000501333.2:p.Gln1224= | |
ENST00000684448.1:n.2346G>A | ||
ENST00000316623.10:c.3672G>A MANE Select | ENSP00000325527.5:p.Gln1224= | |
ENST00000316623.9:c.3672G>A | ENSP00000325527.5:p.Gln1224= | |
ENST00000537463.6:c.637-10764G>A | ENSP00000440294.2:n.637-10764G>A | |
NM_000138.4:c.3672G>A , LRG_778t1:c.3672G>A | NP_000129.3:p.Gln1224= | |
NM_000138.5:c.3672G>A MANE Select | NP_000129.3:p.Gln1224= |