HGVS | Genome Assembly |
---|---|
NC_000003.12:g.49131038T>G , CM000665.2:g.49131038T>G | GRCh38 |
NC_000003.11:g.49168471T>G , CM000665.1:g.49168471T>G | GRCh37 |
NC_000003.10:g.49143475T>G | NCBI36 |
NG_008094.1:g.7129A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000305544.9:c.827A>C MANE Select | ENSP00000307156.4:p.Glu276Ala | |
ENST00000305544.8:c.827A>C | ENSP00000307156.4:p.Glu276Ala | |
ENST00000418109.5:c.827A>C | ENSP00000388325.1:p.Glu276Ala | |
ENST00000494831.1:c.380A>C | ENSP00000444751.1:p.Glu127Ala | |
NM_002292.3:c.827A>C | NP_002283.3:p.Glu276Ala | |
XM_005265127.3:c.827A>C | XP_005265184.1:p.Glu276Ala | |
XM_005265127.4:c.827A>C | XP_005265184.1:p.Glu276Ala | |
NM_002292.4:c.827A>C MANE Select | NP_002283.3:p.Glu276Ala |