HGVS | Genome Assembly |
---|---|
NC_000004.12:g.55091888T>G , CM000666.2:g.55091888T>G | GRCh38 |
NC_000004.11:g.55958055T>G , CM000666.1:g.55958055T>G | GRCh37 |
NC_000004.10:g.55652812T>G | NCBI36 |
NG_012004.1:g.38708A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263923.5:c.3069+729A>C MANE Select | ENSP00000263923.4:n.3069+729A>C | |
ENST00000647068.1:n.3082+729A>C | ||
ENST00000263923.4:c.3069+729A>C | ENSP00000263923.4:n.3069+729A>C | |
NM_002253.2:c.3069+729A>C | NP_002244.1:n.3069+729A>C | |
NM_002253.3:c.3069+729A>C | NP_002244.1:n.3069+729A>C | |
NM_002253.4:c.3069+729A>C MANE Select | NP_002244.1:n.3069+729A>C |