HGVS | Genome Assembly |
---|---|
NC_000008.11:g.60192586C>G , CM000670.2:g.60192586C>G | GRCh38 |
NC_000008.10:g.61105145C>G , CM000670.1:g.61105145C>G | GRCh37 |
NC_000008.9:g.61267699C>G | NCBI36 |
NG_023193.1:g.93810G>C | |
NG_023193.2:g.93810G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000317995.5:c.*36-2601G>C MANE Select | ENSP00000314407.4:n.*36-2601G>C | |
ENST00000317995.4:c.*36-2601G>C | ENSP00000314407.4:n.*36-2601G>C | |
NM_004056.4:c.*36-2601G>C | NP_004047.3:n.*36-2601G>C | |
XM_011517586.1:c.*36-2601G>C | XP_011515888.1:n.*36-2601G>C | |
NM_001321839.1:c.*36-2601G>C | NP_001308768.1:n.*36-2601G>C | |
NM_004056.5:c.*36-2601G>C | NP_004047.3:n.*36-2601G>C | |
NR_135821.1:n.1235-2601G>C | ||
XM_017013818.1:c.*36-2601G>C | XP_016869307.1:n.*36-2601G>C | |
NM_004056.6:c.*36-2601G>C MANE Select | NP_004047.3:n.*36-2601G>C | |
NM_001321839.2:c.*36-2601G>C | NP_001308768.1:n.*36-2601G>C | |
NR_135821.2:n.1212-2601G>C |