Revel Score:
ENST00000368199 (MANE Select)
0.024
ENST00000368198
0.024
ENST00000392306
0.024
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156815190T>A , CM000663.2:g.156815190T>A | GRCh38 |
| NC_000001.10:g.156784982T>A , CM000663.1:g.156784982T>A | GRCh37 |
| NC_000001.9:g.155051606T>A | NCBI36 |
| NG_007493.1:g.4441T>A , LRG_261:g.4441T>A | |
| NG_016849.1:g.6659A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368199.8:c.155A>T MANE Select | ENSP00000357182.3:p.Asn52Ile | |
| ENST00000368198.7:c.101A>T | ENSP00000357181.3:p.Asn34Ile | |
| ENST00000368199.7:c.155A>T | ENSP00000357182.3:p.Asn52Ile | |
| ENST00000392306.2:c.155A>T | ENSP00000376123.2:p.Asn52Ile | |
| ENST00000486350.1:n.222A>T | ||
| ENST00000495306.1:n.207A>T | ||
| NM_001161441.1:c.155A>T | NP_001154913.1:p.Asn52Ile | |
| NM_001161442.1:c.101A>T | NP_001154914.1:p.Asn34Ile | |
| NM_001161443.1:c.71A>T | NP_001154915.1:p.Asn24Ile | |
| NM_001161444.1:c.155A>T | NP_001154916.1:p.Asn52Ile | |
| NM_003975.3:c.155A>T | NP_003966.2:p.Asn52Ile | |
| XM_006711615.1:c.173A>T | XP_006711678.1:p.Asn58Ile | |
| XM_011510113.1:c.161A>T | XP_011508415.1:p.Asn54Ile | |
| XM_011510114.1:c.89A>T | XP_011508416.1:p.Asn30Ile | |
| XM_011510115.1:c.173A>T | XP_011508417.1:p.Asn58Ile | |
| XM_006711615.2:c.173A>T | XP_006711678.1:p.Asn58Ile | |
| XM_017002762.2:c.173A>T | XP_016858251.1:p.Asn58Ile | |
| XM_017002763.1:c.161A>T | XP_016858252.1:p.Asn54Ile | |
| XM_017002764.2:c.143A>T | XP_016858253.1:p.Asn48Ile | |
| XM_017002765.1:c.101A>T | XP_016858254.1:p.Asn34Ile | |
| XM_017002766.1:c.89A>T | XP_016858255.1:p.Asn30Ile | |
| XM_017002767.1:c.173A>T | XP_016858256.1:p.Asn58Ile | |
| NM_001161442.2:c.101A>T | NP_001154914.1:p.Asn34Ile | |
| NM_001161443.2:c.71A>T | NP_001154915.1:p.Asn24Ile | |
| NM_001161444.2:c.155A>T | NP_001154916.1:p.Asn52Ile | |
| NM_003975.4:c.155A>T MANE Select | NP_003966.2:p.Asn52Ile | |
| NM_001161441.2:c.155A>T | NP_001154913.1:p.Asn52Ile |