MyVariant.info:
GRCh37
chr14:g.50745238C>T
gnomAD v4:
Joint Max Group AF
0.00000394 (NFE)
Exomes Max Group AF
0.00000421 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50278520C>T , CM000676.2:g.50278520C>T | GRCh38 |
| NC_000014.8:g.50745238C>T , CM000676.1:g.50745238C>T | GRCh37 |
| NC_000014.7:g.49814988C>T | NCBI36 |
| NG_008092.1:g.38710G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267436.9:c.738G>A MANE Select | ENSP00000267436.4:p.Lys246= | |
| ENST00000261699.8:c.738G>A | ENSP00000261699.4:p.Lys246= | |
| ENST00000267436.8:c.738G>A | ENSP00000267436.4:p.Lys246= | |
| ENST00000421284.7:c.738G>A | ENSP00000405559.3:p.Lys246= | |
| NM_024884.2:c.738G>A | NP_079160.1:p.Lys246= | |
| XM_005268075.3:c.738G>A | XP_005268132.1:p.Lys246= | |
| XM_011537166.1:c.627G>A | XP_011535468.1:p.Lys209= | |
| XM_011537167.1:c.603G>A | XP_011535469.1:p.Lys201= | |
| XM_011537168.1:c.192G>A | XP_011535470.1:p.Lys64= | |
| XM_011537169.1:c.192G>A | XP_011535471.1:p.Lys64= | |
| XR_943538.1:n.1069G>A | ||
| XM_005268075.5:c.738G>A | XP_005268132.1:p.Lys246= | |
| XM_011537166.3:c.627G>A | XP_011535468.1:p.Lys209= | |
| XM_011537167.3:c.603G>A | XP_011535469.1:p.Lys201= | |
| XM_011537168.3:c.192G>A | XP_011535470.1:p.Lys64= | |
| XM_017021655.2:c.627G>A | XP_016877144.1:p.Lys209= | |
| XM_017021656.2:c.192G>A | XP_016877145.1:p.Lys64= | |
| XM_017021657.2:c.192G>A | XP_016877146.1:p.Lys64= | |
| NM_024884.3:c.738G>A MANE Select | NP_079160.1:p.Lys246= |