HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65188535A>C , CM000674.2:g.65188535A>C | GRCh38 |
NC_000012.11:g.65582315A>C , CM000674.1:g.65582315A>C | GRCh37 |
NC_000012.10:g.63868582A>C | NCBI36 |
NG_016210.1:g.23965A>C | |
NG_016210.2:g.23965A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308330.3:c.1522+17417A>C MANE Select | ENSP00000308369.2:n.1522+17417A>C | |
ENST00000308330.2:c.1522+17417A>C | ENSP00000308369.2:n.1522+17417A>C | |
ENST00000541171.1:n.836+18117A>C | ||
NM_001167614.1:c.1522+17417A>C | NP_001161086.1:n.1522+17417A>C | |
NM_014319.4:c.1522+17417A>C | NP_055134.2:n.1522+17417A>C | |
NM_014319.5:c.1522+17417A>C MANE Select | NP_055134.2:n.1522+17417A>C | |
NM_001167614.2:c.1522+17417A>C | NP_001161086.1:n.1522+17417A>C |