HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74919796T>G , CM000679.2:g.74919796T>G | GRCh38 |
NC_000017.10:g.72915891T>G , CM000679.1:g.72915891T>G | GRCh37 |
NC_000017.9:g.70427486T>G | NCBI36 |
NG_007882.1:g.8461A>C | |
NG_033062.1:g.522T>G | |
NG_007882.2:g.8468A>C | |
NG_033062.2:g.522T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000614341.5:c.1040A>C MANE Select | ENSP00000480279.1:p.Gln347Pro | |
ENST00000579243.1:c.*639A>C | ENSP00000462568.1:n.*639A>C | |
ENST00000614341.4:c.1040A>C | ENSP00000480279.1:p.Gln347Pro | |
NM_001282489.2:c.731A>C | NP_001269418.1:p.Gln244Pro | |
NM_173477.4:c.1040A>C | NP_775748.2:p.Gln347Pro | |
XM_011524296.1:c.731A>C | XP_011522598.1:p.Gln244Pro | |
XM_011524296.2:c.731A>C | XP_011522598.1:p.Gln244Pro | |
NM_173477.5:c.1040A>C MANE Select | NP_775748.2:p.Gln347Pro | |
NM_001282489.3:c.731A>C | NP_001269418.1:p.Gln244Pro |