HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129814155C>G , CM000671.2:g.129814155C>G | GRCh38 |
NC_000009.11:g.132576434C>G , CM000671.1:g.132576434C>G | GRCh37 |
NC_000009.10:g.131616255C>G | NCBI36 |
NG_008049.1:g.15008G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.816G>C MANE Select | ENSP00000345719.4:p.Leu272= | |
ENST00000651202.1:c.*84G>C | ENSP00000498222.1:n.*84G>C | |
ENST00000351698.4:c.816G>C | ENSP00000345719.4:p.Leu272= | |
ENST00000474192.1:n.400G>C | ||
NM_000113.2:c.816G>C | NP_000104.1:p.Leu272= | |
XR_929731.1:n.1143G>C | ||
XR_929731.3:n.1011G>C | ||
NM_000113.3:c.816G>C MANE Select | NP_000104.1:p.Leu272= |