HGVS | Genome Assembly |
---|---|
NC_000014.9:g.91272681A>G , CM000676.2:g.91272681A>G | GRCh38 |
NC_000014.8:g.91739025A>G , CM000676.1:g.91739025A>G | GRCh37 |
NC_000014.7:g.90808778A>G | NCBI36 |
NG_033118.1:g.150164T>C | |
NG_033118.2:g.150164T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389857.11:c.6031T>C MANE Select | ENSP00000374507.6:p.Ser2011Pro | |
ENST00000331194.8:c.1465T>C | ENSP00000330332.8:p.Ser489Pro | |
ENST00000389857.10:c.6031T>C | ENSP00000374507.6:p.Ser2011Pro | |
ENST00000556726.5:c.2259T>C | ||
NM_001080414.3:c.6031T>C | NP_001073883.2:p.Ser2011Pro | |
XM_011536796.1:c.5923T>C | XP_011535098.1:p.Ser1975Pro | |
XM_011536796.2:c.5923T>C | XP_011535098.1:p.Ser1975Pro | |
XM_017021336.1:c.3112T>C | XP_016876825.1:p.Ser1038Pro | |
NM_001080414.4:c.6031T>C MANE Select | NP_001073883.2:p.Ser2011Pro |