HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255702C>G , CM000671.2:g.133255702C>G | GRCh38 |
NC_000009.11:g.136131089C>G , CM000671.1:g.136131089C>G | GRCh37 |
NC_000009.10:g.135120910C>G | NCBI36 |
NG_006669.1:g.21966G>C | |
NG_006669.2:g.24514G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.1058G>C | ||
ENST00000647353.1:n.54-4550G>C | ||
ENST00000679909.1:c.28+19460G>C | ENSP00000506089.1:n.28+19460G>C | |
ENST00000453660.3:n.1040G>C | ||
ENST00000538324.2:c.1026G>C | ENSP00000483018.1:p.Ala342= | |
ENST00000611156.4:c.1026G>C | ENSP00000483265.1:p.Ala342= | |
NM_020469.2:c.1029G>C | NP_065202.2:p.Ala343= | |
NM_020469.3:c.1029G>C | NP_065202.2:p.Ala343= |