HGVS | Genome Assembly |
---|---|
NC_000016.10:g.58545370C>T , CM000678.2:g.58545370C>T | GRCh38 |
NC_000016.9:g.58579274C>T , CM000678.1:g.58579274C>T | GRCh37 |
NC_000016.8:g.57136775C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000317147.10:c.4128G>A MANE Select | ENSP00000320949.5:p.Leu1376= | |
ENST00000317147.9:c.4128G>A | ENSP00000320949.5:p.Leu1376= | |
ENST00000441024.6:c.4128G>A | ENSP00000413113.2:p.Leu1376= | |
ENST00000567133.1:c.247G>A | ||
ENST00000567188.5:c.4113G>A | ENSP00000456649.1:p.Leu1371= | |
ENST00000569240.5:c.4113G>A | ENSP00000455635.1:p.Leu1371= | |
NM_001265612.1:c.4113G>A | NP_001252541.1:p.Leu1371= | |
NM_016284.4:c.4128G>A | NP_057368.3:p.Leu1376= | |
NM_206999.2:c.4128G>A | NP_996882.1:p.Leu1376= | |
NR_049763.1:n.4446G>A | ||
NM_016284.5:c.4128G>A MANE Select | NP_057368.3:p.Leu1376= | |
NM_001265612.2:c.4113G>A | NP_001252541.1:p.Leu1371= | |
NM_206999.3:c.4128G>A | NP_996882.1:p.Leu1376= | |
NR_049763.2:n.4386G>A |