HGVS | Genome Assembly |
---|---|
NC_000001.11:g.163076561G>T , CM000663.2:g.163076561G>T | GRCh38 |
NC_000001.10:g.163046351G>T , CM000663.1:g.163046351G>T | GRCh37 |
NC_000001.9:g.161312975G>T | NCBI36 |
NG_023312.1:g.12956G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367909.11:c.*2001G>T MANE Select | ENSP00000356885.6:n.*2001G>T | |
ENST00000367908.8:c.*2170G>T | ENSP00000356884.4:n.*2170G>T | |
ENST00000367909.10:c.*2001G>T | ENSP00000356885.6:n.*2001G>T | |
ENST00000421743.6:c.*2001G>T | ENSP00000397181.2:n.*2001G>T | |
ENST00000491263.1:n.3744G>T | ||
NM_001102445.2:c.*2001G>T | NP_001095915.1:n.*2001G>T | |
NM_001113380.1:c.*2001G>T | NP_001106851.1:n.*2001G>T | |
NM_001113381.1:c.*2170G>T | NP_001106852.1:n.*2170G>T | |
NM_005613.5:c.*2001G>T | NP_005604.1:n.*2001G>T | |
NM_001102445.3:c.*2001G>T | NP_001095915.1:n.*2001G>T | |
NM_005613.6:c.*2001G>T MANE Select | NP_005604.1:n.*2001G>T |