HGVS | Genome Assembly |
---|---|
NC_000001.11:g.145912395A>C , CM000663.2:g.145912395A>C | GRCh38 |
NC_000001.10:g.145522685T>G , CM000663.1:g.145522685T>G | GRCh37 |
NC_000001.9:g.144234042T>G | NCBI36 |
NG_033000.3:g.11530T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369306.8:c.546T>G MANE Select | ENSP00000358312.3:p.Gly182= | |
ENST00000369306.7:c.546T>G | ENSP00000358312.3:p.Gly182= | |
ENST00000428634.1:c.12T>G | ENSP00000414018.1:p.Gly4= | |
ENST00000537888.1:c.504T>G | ENSP00000437510.1:p.Gly168= | |
NM_001184795.1:c.504T>G | NP_001171724.1:p.Gly168= | |
NM_003846.2:c.546T>G | NP_003837.1:p.Gly182= | |
NR_073491.1:n.778T>G | ||
NR_073492.1:n.772T>G | ||
NR_073493.2:n.994T>G | ||
NM_003846.3:c.546T>G MANE Select | NP_003837.1:p.Gly182= | |
NR_073491.2:n.571T>G | ||
NR_073492.2:n.565T>G |