HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764548C>G , CM000674.2:g.57764548C>G | GRCh38 |
NC_000012.11:g.58158331C>G , CM000674.1:g.58158331C>G | GRCh37 |
NC_000012.10:g.56444598C>G | NCBI36 |
NG_007076.1:g.7646G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1047G>C | ENSP00000518840.1:p.Val349= | |
ENST00000713545.1:c.1024G>C | ENSP00000518841.1:p.Val342Leu | |
ENST00000228606.9:c.966G>C MANE Select | ENSP00000228606.4:p.Val322= | |
ENST00000228606.8:c.966G>C | ENSP00000228606.4:p.Val322= | |
ENST00000546567.5:c.261G>C | ENSP00000449472.1:p.Val87= | |
ENST00000547344.5:n.1105G>C | ||
ENST00000547451.1:n.969G>C | ||
NM_000785.3:c.966G>C | NP_000776.1:p.Val322= | |
NM_000785.4:c.966G>C MANE Select | NP_000776.1:p.Val322= |