HGVS | Genome Assembly |
---|---|
NC_000015.10:g.71811822A>C , CM000677.2:g.71811822A>C | GRCh38 |
NC_000015.9:g.72104162A>C , CM000677.1:g.72104162A>C | GRCh37 |
NC_000015.8:g.69891216A>C | NCBI36 |
NG_009113.2:g.6268A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000617575.5:c.302A>C MANE Select | ENSP00000482504.1:p.Gln101Pro | |
ENST00000617575.4:c.302A>C | ENSP00000482504.1:p.Gln101Pro | |
ENST00000621098.1:c.302A>C | ENSP00000479962.1:p.Gln101Pro | |
ENST00000621736.4:c.38A>C | ENSP00000479254.1:p.Gln13Pro | |
NM_014249.3:c.302A>C | NP_055064.1:p.Gln101Pro | |
NM_016346.3:c.302A>C | NP_057430.1:p.Gln101Pro | |
XM_011521146.1:c.38A>C | XP_011519448.1:p.Gln13Pro | |
NM_014249.4:c.302A>C MANE Select | NP_055064.1:p.Gln101Pro | |
NM_016346.4:c.302A>C | NP_057430.1:p.Gln101Pro |