HGVS | Genome Assembly |
---|---|
NC_000014.9:g.60648637T>G , CM000676.2:g.60648637T>G | GRCh38 |
NC_000014.8:g.61115355T>G , CM000676.1:g.61115355T>G | GRCh37 |
NC_000014.7:g.60185108T>G | NCBI36 |
NG_008231.1:g.5801A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000645694.3:c.553A>C MANE Select | ENSP00000494686.1:p.Lys185Gln | |
ENST00000247182.6:c.553A>C | ENSP00000247182.5:p.Lys185Gln | |
ENST00000553535.2:n.249-2060A>C | ||
ENST00000554986.2:c.42-2060A>C | ENSP00000452700.2:n.42-2060A>C | |
ENST00000555955.3:n.1198-2060A>C | ||
NM_005982.3:c.553A>C | NP_005973.1:p.Lys185Gln | |
XM_017021602.2:c.501+52A>C | XP_016877091.1:n.501+52A>C | |
NM_005982.4:c.553A>C MANE Select | NP_005973.1:p.Lys185Gln |