HGVS | Genome Assembly |
---|---|
NC_000007.14:g.32404684T>G , CM000669.2:g.32404684T>G | GRCh38 |
NC_000007.13:g.32444296T>G , CM000669.1:g.32444296T>G | GRCh37 |
NC_000007.12:g.32410821T>G | NCBI36 |
NG_051183.1:g.28541A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000672256.1:c.310+23138A>C | ENSP00000499831.1:n.310+23138A>C | |
NM_001322059.1:c.310+23138A>C | NP_001308988.1:n.310+23138A>C | |
NM_001322059.2:c.310+23138A>C | NP_001308988.1:n.310+23138A>C |