HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33669099T>G , CM000668.2:g.33669099T>G | GRCh38 |
NC_000006.11:g.33636876T>G , CM000668.1:g.33636876T>G | GRCh37 |
NC_000006.10:g.33744854T>G | NCBI36 |
NG_027729.1:g.52721T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000605930.3:c.2132T>G MANE Select | ENSP00000475177.1:p.Leu711Arg | |
ENST00000374316.9:c.2132T>G | ENSP00000363435.4:p.Leu711Arg | |
ENST00000605930.2:c.2132T>G | ENSP00000475177.1:p.Leu711Arg | |
NM_002224.3:c.2132T>G | NP_002215.2:p.Leu711Arg | |
XM_011514576.1:c.2201T>G | XP_011512878.1:p.Leu734Arg | |
XM_011514577.1:c.1949T>G | XP_011512879.1:p.Leu650Arg | |
XM_011514577.3:c.1949T>G | XP_011512879.1:p.Leu650Arg | |
XM_017010832.1:c.2132T>G | XP_016866321.1:p.Leu711Arg | |
NM_002224.4:c.2132T>G MANE Select | NP_002215.2:p.Leu711Arg |