Revel Score:
ENST00000411641 (MANE Select)
0.012
ENST00000541510
0.012
ENST00000273784
0.012
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186620593G>A , CM000665.2:g.186620593G>A | GRCh38 |
| NC_000003.11:g.186338382G>A , CM000665.1:g.186338382G>A | GRCh37 |
| NC_000003.10:g.187821076G>A | NCBI36 |
| NG_011436.1:g.12533G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411641.7:c.767G>A MANE Select | ENSP00000393887.2:p.Ser256Asn | |
| ENST00000273784.5:c.770G>A | ENSP00000273784.5:p.Ser257Asn | |
| ENST00000411641.6:c.767G>A | ENSP00000393887.2:p.Ser256Asn | |
| NM_001622.2:c.767G>A | NP_001613.2:p.Ser256Asn | |
| NM_001354571.1:c.770G>A | NP_001341500.1:p.Ser257Asn | |
| NM_001354572.1:c.764G>A | NP_001341501.1:p.Ser255Asn | |
| NM_001354573.1:c.683G>A | NP_001341502.1:p.Ser228Asn | |
| NM_001622.3:c.767G>A | NP_001613.2:p.Ser256Asn | |
| NM_001622.4:c.767G>A MANE Select | NP_001613.2:p.Ser256Asn | |
| NM_001354571.2:c.770G>A | NP_001341500.1:p.Ser257Asn | |
| NM_001354572.2:c.764G>A | NP_001341501.1:p.Ser255Asn | |
| NM_001354573.2:c.683G>A | NP_001341502.1:p.Ser228Asn |