HGVS | Genome Assembly |
---|---|
NC_000004.12:g.177442420A>G , CM000666.2:g.177442420A>G | GRCh38 |
NC_000004.11:g.178363574A>G , CM000666.1:g.178363574A>G | GRCh37 |
NC_000004.10:g.178600568A>G | NCBI36 |
NG_011845.2:g.5084T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264595.7:c.-45T>C MANE Select | ENSP00000264595.2:n.-45T>C | |
ENST00000264595.6:c.-45T>C | ENSP00000264595.2:n.-45T>C | |
NM_000027.3:c.-45T>C | NP_000018.2:n.-45T>C | |
NM_001171988.1:c.-45T>C | NP_001165459.1:n.-45T>C | |
NR_033655.1:n.84T>C | ||
XM_006714123.2:c.-45T>C | XP_006714186.1:n.-45T>C | |
XR_001741155.2:n.50T>C | ||
NM_000027.4:c.-45T>C MANE Select | NP_000018.2:n.-45T>C | |
NM_001171988.2:c.-45T>C | NP_001165459.1:n.-45T>C | |
NR_033655.2:n.18T>C |