HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135804822A>G , CM000664.2:g.135804822A>G | GRCh38 |
NC_000002.11:g.136562392A>G , CM000664.1:g.136562392A>G | GRCh37 |
NC_000002.10:g.136278862A>G | NCBI36 |
NG_008104.2:g.55348T>C , LRG_338:g.55348T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264162.7:c.4409T>C MANE Select | ENSP00000264162.2:p.Leu1470Pro | |
ENST00000264162.6:c.4409T>C | ENSP00000264162.2:p.Leu1470Pro | |
ENST00000452974.1:c.2705T>C | ENSP00000391231.1:p.Leu902Pro | |
NM_002299.2:c.4409T>C , LRG_338t1:c.4409T>C | NP_002290.2:p.Leu1470Pro | |
NM_002299.3:c.4409T>C | NP_002290.2:p.Leu1470Pro | |
XM_017004088.2:c.4409T>C | XP_016859577.1:p.Leu1470Pro | |
NM_002299.4:c.4409T>C MANE Select | NP_002290.2:p.Leu1470Pro |