HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133257894G>C , CM000671.2:g.133257894G>C | GRCh38 |
NC_000009.11:g.136133281G>C , CM000671.1:g.136133281G>C | GRCh37 |
NC_000009.10:g.135123102G>C | NCBI36 |
NG_006669.1:g.19773C>G | |
NG_006669.2:g.22321C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.269+203C>G | ||
ENST00000647353.1:n.54-6742C>G | ||
ENST00000651471.1:n.329+148C>G | ||
ENST00000679909.1:c.28+17268C>G | ENSP00000506089.1:n.28+17268C>G | |
ENST00000453660.3:n.251+203C>G | ||
ENST00000538324.2:c.239+203C>G | ENSP00000483018.1:n.239+203C>G | |
ENST00000611156.4:c.239+203C>G | ENSP00000483265.1:n.239+203C>G | |
NM_020469.2:c.239+203C>G | NP_065202.2:n.239+203C>G | |
NM_020469.3:c.239+203C>G | NP_065202.2:n.239+203C>G |