HGVS | Genome Assembly |
---|---|
NC_000002.12:g.176119164T>A , CM000664.2:g.176119164T>A | GRCh38 |
NC_000002.11:g.176983892T>A , CM000664.1:g.176983892T>A | GRCh37 |
NC_000002.10:g.176692138T>A | NCBI36 |
NG_008133.2:g.12401T>A , LRG_246:g.12401T>A | |
NG_009225.1:g.1480T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000249501.5:c.956T>A MANE Select | ENSP00000249501.4:p.Met319Lys | |
ENST00000249501.4:c.956T>A | ENSP00000249501.4:p.Met319Lys | |
ENST00000490088.2:n.780T>A | ||
ENST00000549469.1:n.827T>A | ||
NM_002148.3:c.956T>A , LRG_246t1:c.956T>A | NP_002139.2:p.Met319Lys | |
NM_002148.4:c.956T>A MANE Select | NP_002139.2:p.Met319Lys |