HGVS | Genome Assembly |
---|---|
NC_000006.12:g.123352541T>C , CM000668.2:g.123352541T>C | GRCh38 |
NC_000006.11:g.123673686T>C , CM000668.1:g.123673686T>C | GRCh37 |
NC_000006.10:g.123715385T>C | NCBI36 |
NG_030438.1:g.289553A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000334268.9:c.1367A>G MANE Select | ENSP00000333984.5:p.Gln456Arg | |
ENST00000662930.1:c.1370A>G | ENSP00000499585.1:p.Gln457Arg | |
ENST00000334268.8:c.1367A>G | ENSP00000333984.5:p.Gln456Arg | |
NM_001251987.1:c.1370A>G | NP_001238916.1:p.Gln457Arg | |
NM_006073.3:c.1367A>G | NP_006064.2:p.Gln456Arg | |
XM_011535382.1:c.1364A>G | XP_011533684.1:p.Gln455Arg | |
NM_006073.4:c.1367A>G MANE Select | NP_006064.2:p.Gln456Arg | |
NM_001251987.2:c.1370A>G | NP_001238916.1:p.Gln457Arg |