HGVS | Genome Assembly |
---|---|
NC_000014.9:g.91273376A>G , CM000676.2:g.91273376A>G | GRCh38 |
NC_000014.8:g.91739720A>G , CM000676.1:g.91739720A>G | GRCh37 |
NC_000014.7:g.90809473A>G | NCBI36 |
NG_033118.1:g.149469T>C | |
NG_033118.2:g.149469T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389857.11:c.5336T>C MANE Select | ENSP00000374507.6:p.Leu1779Pro | |
ENST00000331194.8:c.908T>C | ENSP00000330332.8:p.Leu303Pro | |
ENST00000389857.10:c.5336T>C | ENSP00000374507.6:p.Leu1779Pro | |
ENST00000556726.5:c.1564T>C | ||
NM_001080414.3:c.5336T>C | NP_001073883.2:p.Leu1779Pro | |
XM_011536796.1:c.5228T>C | XP_011535098.1:p.Leu1743Pro | |
XM_011536796.2:c.5228T>C | XP_011535098.1:p.Leu1743Pro | |
XM_017021336.1:c.2417T>C | XP_016876825.1:p.Leu806Pro | |
NM_001080414.4:c.5336T>C MANE Select | NP_001073883.2:p.Leu1779Pro |