HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7526767G>C , CM000681.2:g.7526767G>C | GRCh38 |
NC_000019.9:g.7591653G>C , CM000681.1:g.7591653G>C | GRCh37 |
NC_000019.8:g.7497653G>C | NCBI36 |
NG_015806.1:g.9158G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264079.11:c.412G>C MANE Select | ENSP00000264079.5:p.Ala138Pro | |
ENST00000264079.10:c.412G>C | ENSP00000264079.5:p.Ala138Pro | |
ENST00000394321.9:n.492G>C | ||
ENST00000596008.1:n.374G>C | ||
ENST00000598406.1:n.233G>C | ||
ENST00000601003.1:c.412G>C | ENSP00000469074.1:p.Ala138Pro | |
NM_020533.2:c.412G>C | NP_065394.1:p.Ala138Pro | |
NM_020533.3:c.412G>C MANE Select | NP_065394.1:p.Ala138Pro |