HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23421026G>C , CM000676.2:g.23421026G>C | GRCh38 |
NC_000014.8:g.23890235G>C , CM000676.1:g.23890235G>C | GRCh37 |
NC_000014.7:g.22960075G>C | NCBI36 |
NG_007884.1:g.19636C>G , LRG_384:g.19636C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.3268C>G MANE Select | ENSP00000347507.3:p.Leu1090Val | |
ENST00000355349.3:c.3268C>G | ENSP00000347507.3:p.Leu1090Val | |
NM_000257.3:c.3268C>G | NP_000248.2:p.Leu1090Val | |
XR_245686.3:n.3376C>G | ||
XM_017021340.1:c.3268C>G | XP_016876829.1:p.Leu1090Val | |
NM_000257.4:c.3268C>G MANE Select | NP_000248.2:p.Leu1090Val |