HGVS | Genome Assembly |
---|---|
NC_000009.12:g.6595023A>G , CM000671.2:g.6595023A>G | GRCh38 |
NC_000009.11:g.6595023A>G , CM000671.1:g.6595023A>G | GRCh37 |
NC_000009.10:g.6585023A>G | NCBI36 |
NG_016397.1:g.55670T>C , LRG_643:g.55670T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000321612.8:c.1252T>C MANE Select | ENSP00000370737.4:p.Leu418= | |
ENST00000639364.1:n.952T>C | ||
ENST00000639443.1:n.820T>C | ||
ENST00000639493.1:n.404T>C | ||
ENST00000639954.1:n.960T>C | ||
ENST00000640592.1:n.1135T>C | ||
ENST00000321612.6:c.1252T>C | ENSP00000370737.3:p.Leu418= | |
ENST00000463305.1:n.336T>C | ||
NM_000170.2:c.1252T>C , LRG_643t1:c.1252T>C | NP_000161.2:p.Leu418= | |
NM_000170.3:c.1252T>C MANE Select | NP_000161.2:p.Leu418= |