MyVariant.info:
GRCh38
chr19:g.41717688G>C
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41717688G>C , CM000681.2:g.41717688G>C | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221992.11:c.1192G>C MANE Select | ENSP00000221992.5:p.Glu398Gln | |
| ENST00000221992.10:c.1192G>C | ENSP00000221992.5:p.Glu398Gln | |
| ENST00000398599.8:c.1189G>C | ENSP00000381600.4:p.Glu397Gln | |
| ENST00000405816.5:c.1192G>C | ENSP00000385072.1:p.Glu398Gln | |
| ENST00000435837.2:c.64+8893G>C | ENSP00000469926.1:n.64+8893G>C | |
| ENST00000595403.1:c.325-2242G>C | ||
| ENST00000598976.1:c.424+7649G>C | ENSP00000469421.1:n.424+7649G>C | |
| ENST00000615021.4:c.658G>C | ENSP00000482157.1:p.Glu220Gln | |
| ENST00000616453.1:c.613-2430G>C | ENSP00000480800.1:n.613-2430G>C | |
| ENST00000617332.4:c.1192G>C | ENSP00000482303.1:p.Glu398Gln | |
| NM_001291484.1:c.1192G>C | NP_001278413.1:p.Glu398Gln | |
| NM_001291484.2:c.1192G>C | NP_001278413.1:p.Glu398Gln | |
| NM_001308398.1:c.1189G>C | NP_001295327.1:p.Glu397Gln | |
| NM_004363.4:c.1192G>C | NP_004354.3:p.Glu398Gln | |
| NM_004363.5:c.1192G>C | NP_004354.3:p.Glu398Gln | |
| XM_005258413.3:c.1192G>C | XP_005258470.2:p.Glu398Gln | |
| XM_011526322.1:c.704-440G>C | XP_011524624.1:n.704-440G>C | |
| XM_011526322.2:c.704-440G>C | XP_011524624.1:n.704-440G>C | |
| XM_017026145.2:c.1189G>C | XP_016881634.1:p.Glu397Gln | |
| XM_017026146.2:c.937G>C | XP_016881635.1:p.Glu313Gln | |
| NM_001291484.3:c.1192G>C | NP_001278413.1:p.Glu398Gln | |
| NM_001308398.2:c.1189G>C | NP_001295327.1:p.Glu397Gln | |
| NM_004363.6:c.1192G>C MANE Select | NP_004354.3:p.Glu398Gln |