HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129818918A>G , CM000671.2:g.129818918A>G | GRCh38 |
NC_000009.11:g.132581197A>G , CM000671.1:g.132581197A>G | GRCh37 |
NC_000009.10:g.131621018A>G | NCBI36 |
NG_008049.1:g.10245T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.447T>C MANE Select | ENSP00000345719.4:p.Asp149= | |
ENST00000651202.1:c.543T>C | ENSP00000498222.1:p.Asp181= | |
ENST00000351698.4:c.447T>C | ENSP00000345719.4:p.Asp149= | |
ENST00000473604.2:n.557T>C | ||
NM_000113.2:c.447T>C | NP_000104.1:p.Asp149= | |
XR_929731.1:n.607T>C | ||
XR_929731.3:n.475T>C | ||
NM_000113.3:c.447T>C MANE Select | NP_000104.1:p.Asp149= |