HGVS | Genome Assembly |
---|---|
NC_000022.11:g.39244754G>A , CM000684.2:g.39244754G>A | GRCh38 |
NC_000022.10:g.39640759G>A , CM000684.1:g.39640759G>A | GRCh37 |
NC_000022.9:g.37970705G>A | NCBI36 |
NG_012111.1:g.5199C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331163.11:c.-791C>T MANE Select | ENSP00000330382.6:n.-791C>T | |
NM_002608.2:c.-791C>T | NP_002599.1:n.-791C>T | |
NM_002608.3:c.-791C>T | NP_002599.1:n.-791C>T | |
NM_002608.4:c.-791C>T MANE Select | NP_002599.1:n.-791C>T |