HGVS | Genome Assembly |
---|---|
NC_000004.12:g.47406878A>C , CM000666.2:g.47406878A>C | GRCh38 |
NC_000004.11:g.47408895A>C , CM000666.1:g.47408895A>C | GRCh37 |
NC_000004.10:g.47103652A>C | NCBI36 |
NG_051831.1:g.380601A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295454.8:c.1032A>C MANE Select | ENSP00000295454.3:p.Gln344His | |
ENST00000295454.7:c.1032A>C | ENSP00000295454.3:p.Gln344His | |
NM_000812.3:c.1032A>C | NP_000803.2:p.Gln344His | |
XM_011513678.1:c.1011A>C | XP_011511980.1:p.Gln337His | |
XM_017007985.1:c.381A>C | XP_016863474.1:p.Gln127His | |
XM_024453976.1:c.933A>C | XP_024309744.1:p.Gln311His | |
XM_024453977.1:c.933A>C | XP_024309745.1:p.Gln311His | |
XM_024453978.1:c.933A>C | XP_024309746.1:p.Gln311His | |
NM_000812.4:c.1032A>C MANE Select | NP_000803.2:p.Gln344His |