HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133256137C>G , CM000671.2:g.133256137C>G | GRCh38 |
NC_000009.11:g.136131524C>G , CM000671.1:g.136131524C>G | GRCh37 |
NC_000009.10:g.135121345C>G | NCBI36 |
NG_006669.1:g.21531G>C | |
NG_006669.2:g.24079G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.623G>C | ||
ENST00000647353.1:n.54-4985G>C | ||
ENST00000651471.1:n.549G>C | ||
ENST00000679909.1:c.28+19025G>C | ENSP00000506089.1:n.28+19025G>C | |
ENST00000453660.3:n.605G>C | ||
ENST00000538324.2:c.591G>C | ENSP00000483018.1:p.Arg197= | |
ENST00000611156.4:c.591G>C | ENSP00000483265.1:p.Arg197= | |
NM_020469.2:c.594G>C | NP_065202.2:p.Arg198= | |
NM_020469.3:c.594G>C | NP_065202.2:p.Arg198= |