HGVS | Genome Assembly |
---|---|
NC_000007.14:g.93103942T>G , CM000669.2:g.93103942T>G | GRCh38 |
NC_000007.13:g.92733255T>G , CM000669.1:g.92733255T>G | GRCh37 |
NC_000007.12:g.92571191T>G | NCBI36 |
NG_023419.1:g.19082A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379958.3:c.2156A>C MANE Select | ENSP00000369292.2:p.Gln719Pro | |
ENST00000379958.2:c.2156A>C | ENSP00000369292.2:p.Gln719Pro | |
ENST00000446617.1:c.2156A>C | ENSP00000414529.1:p.Gln719Pro | |
ENST00000620985.4:c.2156A>C | ENSP00000484636.1:p.Gln719Pro | |
NM_001193307.1:c.2156A>C | NP_001180236.1:p.Gln719Pro | |
NM_017654.3:c.2156A>C | NP_060124.2:p.Gln719Pro | |
NM_017654.4:c.2156A>C MANE Select | NP_060124.2:p.Gln719Pro | |
NM_001193307.2:c.2156A>C | NP_001180236.1:p.Gln719Pro |