HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129813945A>G , CM000671.2:g.129813945A>G | GRCh38 |
NC_000009.11:g.132576224A>G , CM000671.1:g.132576224A>G | GRCh37 |
NC_000009.10:g.131616045A>G | NCBI36 |
NG_008049.1:g.15218T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.*27T>C MANE Select | ENSP00000345719.4:n.*27T>C | |
ENST00000651202.1:c.*294T>C | ENSP00000498222.1:n.*294T>C | |
ENST00000351698.4:c.*27T>C | ENSP00000345719.4:n.*27T>C | |
ENST00000474192.1:n.610T>C | ||
NM_000113.2:c.*27T>C | NP_000104.1:n.*27T>C | |
XR_929731.3:n.1221T>C | ||
NM_000113.3:c.*27T>C MANE Select | NP_000104.1:n.*27T>C |