HGVS | Genome Assembly |
---|---|
NC_000011.10:g.46827394A>G , CM000673.2:g.46827394A>G | GRCh38 |
NC_000011.9:g.46848945A>G , CM000673.1:g.46848945A>G | GRCh37 |
NC_000011.8:g.46805521A>G | NCBI36 |
NG_029924.1:g.23915T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000529230.6:c.-37-6126T>C MANE Select | ENSP00000432768.1:n.-37-6126T>C | |
ENST00000312055.9:c.-37-6126T>C | ENSP00000310227.5:n.-37-6126T>C | |
ENST00000525248.1:n.78-6146T>C | ||
ENST00000529230.5:c.-37-6126T>C | ENSP00000432768.1:n.-37-6126T>C | |
NM_001008938.3:c.-37-6126T>C | NP_001008938.1:n.-37-6126T>C | |
NM_014756.3:c.-37-6126T>C | NP_055571.2:n.-37-6126T>C | |
NM_001008938.4:c.-37-6126T>C MANE Select | NP_001008938.1:n.-37-6126T>C | |
NM_014756.4:c.-37-6126T>C | NP_055571.2:n.-37-6126T>C |