HGVS | Genome Assembly |
---|---|
NC_000017.11:g.40313769A>C , CM000679.2:g.40313769A>C | GRCh38 |
NC_000017.10:g.38470021A>C , CM000679.1:g.38470021A>C | GRCh37 |
NC_000017.9:g.35723547A>C | NCBI36 |
NG_027701.1:g.9599A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000254066.10:c.-363+4483A>C MANE Select | ENSP00000254066.5:n.-363+4483A>C | |
ENST00000254066.9:c.-363+4483A>C | ENSP00000254066.5:n.-363+4483A>C | |
ENST00000577646.5:c.-440+4483A>C | ENSP00000464287.1:n.-440+4483A>C | |
NM_000964.3:c.-363+4483A>C | NP_000955.1:n.-363+4483A>C | |
XM_011525095.1:c.-440+4483A>C | XP_011523397.1:n.-440+4483A>C | |
NM_000964.4:c.-363+4483A>C MANE Select | NP_000955.1:n.-363+4483A>C |