HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133256221C>G , CM000671.2:g.133256221C>G | GRCh38 |
NC_000009.11:g.136131608C>G , CM000671.1:g.136131608C>G | GRCh37 |
NC_000009.10:g.135121429C>G | NCBI36 |
NG_006669.1:g.21447G>C | |
NG_006669.2:g.23995G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.539G>C | ||
ENST00000647353.1:n.54-5069G>C | ||
ENST00000651471.1:n.465G>C | ||
ENST00000679909.1:c.28+18941G>C | ENSP00000506089.1:n.28+18941G>C | |
ENST00000453660.3:n.521G>C | ||
ENST00000538324.2:c.507G>C | ENSP00000483018.1:p.Leu169= | |
ENST00000611156.4:c.507G>C | ENSP00000483265.1:p.Leu169= | |
NM_020469.2:c.510G>C | NP_065202.2:p.Leu170= | |
NM_020469.3:c.510G>C | NP_065202.2:p.Leu170= |