HGVS | Genome Assembly |
---|---|
NC_000012.12:g.102917389T>G , CM000674.2:g.102917389T>G | GRCh38 |
NC_000012.11:g.103311167T>G , CM000674.1:g.103311167T>G | GRCh37 |
NC_000012.10:g.101835297T>G | NCBI36 |
NG_008690.1:g.5215A>C | |
NG_008690.2:g.46022A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546708.5:n.493-164A>C | ||
ENST00000546844.1:c.-95-164A>C | ENSP00000446658.1:n.-95-164A>C | |
ENST00000547319.1:n.217-164A>C | ||
ENST00000551337.5:c.-95-164A>C | ENSP00000447620.1:n.-95-164A>C | |
ENST00000553106.5:c.-259A>C | ENSP00000448059.1:n.-259A>C | |
ENST00000635500.1:n.29-4491A>C | ||
NM_000277.1:c.-258A>C | NP_000268.1:n.-258A>C | |
NM_000277.2:c.-259A>C | NP_000268.1:n.-259A>C | |
NM_001354304.1:c.-95-164A>C | NP_001341233.1:n.-95-164A>C | |
NM_001354304.2:c.-95-164A>C | NP_001341233.1:n.-95-164A>C |