HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32589729T>G , CM000668.2:g.32589729T>G | GRCh38 |
NC_000006.11:g.32557506T>G , CM000668.1:g.32557506T>G | GRCh37 |
NC_000006.10:g.32665484T>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360004.6:c.14A>C MANE Select | ENSP00000353099.5:p.Lys5Thr | |
ENST00000696610.1:c.14A>C | ENSP00000512754.1:p.Lys5Thr | |
ENST00000696612.1:n.77A>C | ||
ENST00000360004.5:c.14A>C | ENSP00000353099.5:p.Lys5Thr | |
ENST00000611060.4:c.14A>C | ENSP00000480667.1:p.Lys5Thr | |
NM_002124.3:c.14A>C | NP_002115.2:p.Lys5Thr | |
NM_002124.4:c.14A>C MANE Select | NP_002115.2:p.Lys5Thr |