HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135798052C>G , CM000664.2:g.135798052C>G | GRCh38 |
NC_000002.11:g.136555622C>G , CM000664.1:g.136555622C>G | GRCh37 |
NC_000002.10:g.136272092C>G | NCBI36 |
NG_008104.2:g.62118G>C , LRG_338:g.62118G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264162.7:c.4953G>C MANE Select | ENSP00000264162.2:p.Leu1651Phe | |
ENST00000264162.6:c.4953G>C | ENSP00000264162.2:p.Leu1651Phe | |
ENST00000452974.1:c.3046G>C | ENSP00000391231.1:n.3046G>C | |
NM_002299.2:c.4953G>C , LRG_338t1:c.4953G>C | NP_002290.2:p.Leu1651Phe | |
NM_002299.3:c.4953G>C | NP_002290.2:p.Leu1651Phe | |
XM_017004088.2:c.4953G>C | XP_016859577.1:p.Leu1651Phe | |
NM_002299.4:c.4953G>C MANE Select | NP_002290.2:p.Leu1651Phe |