MyVariant.info:
GRCh37
chr1:g.24151855G>T
Revel Score:
ENST00000235958
0.030
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23825365G>T , CM000663.2:g.23825365G>T | GRCh38 |
| NC_000001.10:g.24151855G>T , CM000663.1:g.24151855G>T | GRCh37 |
| NC_000001.9:g.24024442G>T | NCBI36 |
| NG_013061.1:g.5095C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374490.8:c.51C>A MANE Select | ENSP00000363614.3:p.Ser17= | |
| ENST00000235958.4:c.38C>A | ||
| ENST00000374487.6:c.*101+719C>A | ENSP00000363611.2:n.*101+719C>A | |
| ENST00000374490.7:c.51C>A | ENSP00000363614.3:p.Ser17= | |
| ENST00000436439.6:c.51C>A | ENSP00000389281.2:p.Ser17= | |
| ENST00000509389.5:n.63C>A | ||
| ENST00000513148.1:n.52C>A | ||
| NM_000191.2:c.51C>A | NP_000182.2:p.Ser17= | |
| NM_001166059.1:c.51C>A | NP_001159531.1:p.Ser17= | |
| NM_000191.3:c.51C>A MANE Select | NP_000182.2:p.Ser17= | |
| NM_001166059.2:c.51C>A | NP_001159531.1:p.Ser17= |