HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33668993A>G , CM000668.2:g.33668993A>G | GRCh38 |
NC_000006.11:g.33636770A>G , CM000668.1:g.33636770A>G | GRCh37 |
NC_000006.10:g.33744748A>G | NCBI36 |
NG_027729.1:g.52615A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000605930.3:c.2026A>G MANE Select | ENSP00000475177.1:p.Met676Val | |
ENST00000374316.9:c.2026A>G | ENSP00000363435.4:p.Met676Val | |
ENST00000605930.2:c.2026A>G | ENSP00000475177.1:p.Met676Val | |
NM_002224.3:c.2026A>G | NP_002215.2:p.Met676Val | |
XM_011514576.1:c.2095A>G | XP_011512878.1:p.Met699Val | |
XM_011514577.1:c.1843A>G | XP_011512879.1:p.Met615Val | |
XM_011514577.3:c.1843A>G | XP_011512879.1:p.Met615Val | |
XM_017010832.1:c.2026A>G | XP_016866321.1:p.Met676Val | |
NM_002224.4:c.2026A>G MANE Select | NP_002215.2:p.Met676Val |