HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153690453A>C , CM000685.2:g.153690453A>C | GRCh38 |
NC_000023.10:g.152955908A>C , CM000685.1:g.152955908A>C | GRCh37 |
NC_000023.9:g.152609102A>C | NCBI36 |
NG_012016.1:g.7157A>C | |
NG_012016.2:g.7157A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253122.10:c.341A>C MANE Select | ENSP00000253122.5:p.Gln114Pro | |
ENST00000675713.1:n.95A>C | ||
ENST00000253122.9:c.341A>C | ENSP00000253122.5:p.Gln114Pro | |
ENST00000430077.6:c.-5A>C | ENSP00000403041.2:n.-5A>C | |
ENST00000476466.1:n.193A>C | ||
NM_001142805.1:c.341A>C | NP_001136277.1:p.Gln114Pro | |
NM_001142806.1:c.-5A>C | NP_001136278.1:n.-5A>C | |
NM_005629.3:c.341A>C | NP_005620.1:p.Gln114Pro | |
NM_005629.4:c.341A>C MANE Select | NP_005620.1:p.Gln114Pro | |
NM_001142805.2:c.341A>C | NP_001136277.1:p.Gln114Pro |