HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33669097G>T , CM000668.2:g.33669097G>T | GRCh38 |
NC_000006.11:g.33636874G>T , CM000668.1:g.33636874G>T | GRCh37 |
NC_000006.10:g.33744852G>T | NCBI36 |
NG_027729.1:g.52719G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000605930.3:c.2130G>T MANE Select | ENSP00000475177.1:p.Gln710His | |
ENST00000374316.9:c.2130G>T | ENSP00000363435.4:p.Gln710His | |
ENST00000605930.2:c.2130G>T | ENSP00000475177.1:p.Gln710His | |
NM_002224.3:c.2130G>T | NP_002215.2:p.Gln710His | |
XM_011514576.1:c.2199G>T | XP_011512878.1:p.Gln733His | |
XM_011514577.1:c.1947G>T | XP_011512879.1:p.Gln649His | |
XM_011514577.3:c.1947G>T | XP_011512879.1:p.Gln649His | |
XM_017010832.1:c.2130G>T | XP_016866321.1:p.Gln710His | |
NM_002224.4:c.2130G>T MANE Select | NP_002215.2:p.Gln710His |