HGVS | Genome Assembly |
---|---|
NC_000004.12:g.177442428C>G , CM000666.2:g.177442428C>G | GRCh38 |
NC_000004.11:g.178363582C>G , CM000666.1:g.178363582C>G | GRCh37 |
NC_000004.10:g.178600576C>G | NCBI36 |
NG_011845.2:g.5076G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264595.7:c.-53G>C MANE Select | ENSP00000264595.2:n.-53G>C | |
ENST00000264595.6:c.-53G>C | ENSP00000264595.2:n.-53G>C | |
NM_000027.3:c.-53G>C | NP_000018.2:n.-53G>C | |
NM_001171988.1:c.-53G>C | NP_001165459.1:n.-53G>C | |
NR_033655.1:n.76G>C | ||
XM_006714123.2:c.-53G>C | XP_006714186.1:n.-53G>C | |
XR_001741155.2:n.42G>C | ||
NM_000027.4:c.-53G>C MANE Select | NP_000018.2:n.-53G>C | |
NM_001171988.2:c.-53G>C | NP_001165459.1:n.-53G>C | |
NR_033655.2:n.10G>C |