HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129176634T>C , CM000671.2:g.129176634T>C | GRCh38 |
NC_000009.11:g.131938913T>C , CM000671.1:g.131938913T>C | GRCh37 |
NC_000009.10:g.130978734T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000372491.4:c.*204A>G MANE Select | ENSP00000361569.2:n.*204A>G | |
ENST00000674559.1:c.109-32235T>C | ENSP00000502494.1:n.109-32235T>C | |
ENST00000674648.1:c.109-32235T>C | ENSP00000502744.1:n.109-32235T>C | |
ENST00000372491.3:c.*204A>G | ENSP00000361569.2:n.*204A>G | |
NM_203434.2:c.*204A>G | NP_982258.2:n.*204A>G | |
NM_203434.3:c.*204A>G MANE Select | NP_982258.2:n.*204A>G |