HGVS | Genome Assembly |
---|---|
NC_000004.12:g.55091877T>C , CM000666.2:g.55091877T>C | GRCh38 |
NC_000004.11:g.55958044T>C , CM000666.1:g.55958044T>C | GRCh37 |
NC_000004.10:g.55652801T>C | NCBI36 |
NG_012004.1:g.38719A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263923.5:c.3069+740A>G MANE Select | ENSP00000263923.4:n.3069+740A>G | |
ENST00000647068.1:n.3082+740A>G | ||
ENST00000263923.4:c.3069+740A>G | ENSP00000263923.4:n.3069+740A>G | |
NM_002253.2:c.3069+740A>G | NP_002244.1:n.3069+740A>G | |
NM_002253.3:c.3069+740A>G | NP_002244.1:n.3069+740A>G | |
NM_002253.4:c.3069+740A>G MANE Select | NP_002244.1:n.3069+740A>G |