HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154896103G>T , CM000685.2:g.154896103G>T | GRCh38 |
NC_000023.10:g.154124378G>T , CM000685.1:g.154124378G>T | GRCh37 |
NC_000023.9:g.153777572G>T | NCBI36 |
NG_011403.1:g.131621C>A | |
NG_011403.2:g.131621C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.6403C>A MANE Select | ENSP00000353393.4:p.Arg2135= | |
ENST00000360256.8:c.6403C>A | ENSP00000353393.4:p.Arg2135= | |
NM_000132.3:c.6403C>A | NP_000123.1:p.Arg2135= | |
XM_011531126.1:c.6298C>A | XP_011529428.1:p.Arg2100= | |
NM_000132.4:c.6403C>A MANE Select | NP_000123.1:p.Arg2135= |