Revel Score:
ENST00000393897
0.112
ENST00000272324 (MANE Select)
0.112
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.79027048G>T , CM000664.2:g.79027048G>T | GRCh38 |
| NC_000002.11:g.79254174G>T , CM000664.1:g.79254174G>T | GRCh37 |
| NC_000002.10:g.79107682G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272324.10:c.210G>T MANE Select | ENSP00000272324.5:p.Lys70Asn | |
| ENST00000272324.9:c.210G>T | ENSP00000272324.5:p.Lys70Asn | |
| ENST00000393897.6:c.210G>T | ENSP00000377475.2:p.Lys70Asn | |
| ENST00000409471.1:c.195+217G>T | ENSP00000387105.1:n.195+217G>T | |
| ENST00000490944.1:n.764G>T | ||
| NM_001008387.2:c.210G>T | NP_001008388.1:p.Lys70Asn | |
| NM_001270040.1:c.195+217G>T | NP_001256969.1:n.195+217G>T | |
| NM_198448.3:c.210G>T | NP_940850.1:p.Lys70Asn | |
| XM_005264135.1:c.210G>T | XP_005264192.1:p.Lys70Asn | |
| XM_005264135.2:c.210G>T | XP_005264192.1:p.Lys70Asn | |
| XM_024452693.1:c.195+217G>T | XP_024308461.1:n.195+217G>T | |
| XM_024452694.1:c.195+217G>T | XP_024308462.1:n.195+217G>T | |
| NM_001008387.3:c.210G>T MANE Select | NP_001008388.1:p.Lys70Asn | |
| NM_001270040.2:c.195+217G>T | NP_001256969.1:n.195+217G>T | |
| NM_198448.4:c.210G>T | NP_940850.1:p.Lys70Asn |