HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48472625A>C , CM000677.2:g.48472625A>C | GRCh38 |
NC_000015.9:g.48764822A>C , CM000677.1:g.48764822A>C | GRCh37 |
NC_000015.8:g.46552114A>C | NCBI36 |
NG_008805.2:g.178164T>G , LRG_778:g.178164T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4262T>G | ENSP00000453958.2:p.Leu1421Arg | |
ENST00000674301.2:c.4262T>G | ENSP00000501333.2:p.Leu1421Arg | |
ENST00000683268.1:n.229T>G | ||
ENST00000684448.1:n.2936T>G | ||
ENST00000316623.10:c.4262T>G MANE Select | ENSP00000325527.5:p.Leu1421Arg | |
ENST00000316623.9:c.4262T>G | ENSP00000325527.5:p.Leu1421Arg | |
ENST00000537463.6:c.*25T>G | ENSP00000440294.2:n.*25T>G | |
NM_000138.4:c.4262T>G , LRG_778t1:c.4262T>G | NP_000129.3:p.Leu1421Arg | |
NM_000138.5:c.4262T>G MANE Select | NP_000129.3:p.Leu1421Arg |