HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55044006T>C , CM000663.2:g.55044006T>C | GRCh38 |
NC_000001.10:g.55509679T>C , CM000663.1:g.55509679T>C | GRCh37 |
NC_000001.9:g.55282267T>C | NCBI36 |
NG_009061.1:g.9460T>C , LRG_275:g.9460T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.371T>C | ENSP00000501161.2:p.Val124Ala | |
ENST00000710286.1:c.728T>C | ENSP00000518176.1:p.Val243Ala | |
ENST00000673662.1:n.41T>C | ||
ENST00000673726.1:c.371T>C | ENSP00000501004.1:p.Val124Ala | |
ENST00000673903.1:c.-5T>C | ENSP00000501257.1:n.-5T>C | |
ENST00000302118.5:c.371T>C MANE Select | ENSP00000303208.5:p.Val124Ala | |
NM_174936.3:c.371T>C , LRG_275t1:c.371T>C | NP_777596.2:p.Val124Ala | |
NR_110451.1:n.182+3603T>C | ||
NM_174936.4:c.371T>C MANE Select | NP_777596.2:p.Val124Ala | |
NR_110451.2:n.182+3603T>C |