HGVS | Genome Assembly |
---|---|
NC_000023.11:g.155022477G>C , CM000685.2:g.155022477G>C | GRCh38 |
NC_000023.10:g.154250752G>C , CM000685.1:g.154250752G>C | GRCh37 |
NC_000023.9:g.153903946G>C | NCBI36 |
NG_011403.1:g.5247C>G | |
NG_011403.2:g.5247C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.76C>G MANE Select | ENSP00000353393.4:p.Leu26Val | |
ENST00000647125.1:c.76C>G | ENSP00000496062.1:p.Leu26Val | |
ENST00000360256.8:c.76C>G | ENSP00000353393.4:p.Leu26Val | |
ENST00000423959.5:c.38+4303C>G | ENSP00000409446.1:n.38+4303C>G | |
ENST00000453950.1:c.58C>G | ENSP00000389153.1:p.Leu20Val | |
NM_000132.3:c.76C>G | NP_000123.1:p.Leu26Val | |
XM_011531126.1:c.38+4303C>G | XP_011529428.1:n.38+4303C>G | |
NM_000132.4:c.76C>G MANE Select | NP_000123.1:p.Leu26Val |