HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48474576T>G , CM000677.2:g.48474576T>G | GRCh38 |
NC_000015.9:g.48766773T>G , CM000677.1:g.48766773T>G | GRCh37 |
NC_000015.8:g.46554065T>G | NCBI36 |
NG_008805.2:g.176213A>C , LRG_778:g.176213A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4039A>C | ENSP00000453958.2:p.Lys1347Gln | |
ENST00000674301.2:c.4039A>C | ENSP00000501333.2:p.Lys1347Gln | |
ENST00000684448.1:n.2713A>C | ||
ENST00000316623.10:c.4039A>C MANE Select | ENSP00000325527.5:p.Lys1347Gln | |
ENST00000316623.9:c.4039A>C | ENSP00000325527.5:p.Lys1347Gln | |
ENST00000537463.6:c.711A>C | ENSP00000440294.2:p.Ser237= | |
NM_000138.4:c.4039A>C , LRG_778t1:c.4039A>C | NP_000129.3:p.Lys1347Gln | |
NM_000138.5:c.4039A>C MANE Select | NP_000129.3:p.Lys1347Gln |