HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48459799A>C , CM000675.2:g.48459799A>C | GRCh38 |
NC_000013.10:g.49033935A>C , CM000675.1:g.49033935A>C | GRCh37 |
NC_000013.9:g.47931936A>C | NCBI36 |
NG_009009.1:g.161053A>C , LRG_517:g.161053A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.2072A>C MANE Select | ENSP00000267163.4:p.Glu691Ala | |
ENST00000643064.1:c.194+78356A>C | ||
ENST00000650461.1:c.2072A>C | ENSP00000497193.1:p.Glu691Ala | |
ENST00000267163.4:c.2072A>C | ENSP00000267163.4:p.Glu691Ala | |
NM_000321.2:c.2072A>C , LRG_517t1:c.2072A>C | NP_000312.2:p.Glu691Ala | |
XM_011535171.1:c.1811A>C | XP_011533473.1:p.Glu604Ala | |
XM_011535171.2:c.1811A>C | XP_011533473.1:p.Glu604Ala | |
NM_000321.3:c.2072A>C MANE Select | NP_000312.2:p.Glu691Ala |