Revel Score:
ENST00000272895 (MANE Select)
0.157
ENST00000389661
0.157
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215011445T>G , CM000664.2:g.215011445T>G | GRCh38 |
| NC_000002.11:g.215876169T>G , CM000664.1:g.215876169T>G | GRCh37 |
| NC_000002.10:g.215584414T>G | NCBI36 |
| NG_007074.1:g.131983A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.2326A>C MANE Select | ENSP00000272895.7:p.Asn776His | |
| ENST00000272895.11:c.2326A>C | ENSP00000272895.7:p.Asn776His | |
| ENST00000389661.4:c.1372A>C | ENSP00000374312.4:p.Asn458His | |
| NM_015657.3:c.1372A>C | NP_056472.2:p.Asn458His | |
| NM_173076.2:c.2326A>C | NP_775099.2:p.Asn776His | |
| NR_103740.1:n.2570A>C | ||
| XM_011510951.1:c.2326A>C | XP_011509253.1:p.Asn776His | |
| XM_011510952.1:c.2326A>C | XP_011509254.1:p.Asn776His | |
| XM_011510951.2:c.2326A>C | XP_011509253.1:p.Asn776His | |
| NM_173076.3:c.2326A>C MANE Select | NP_775099.2:p.Asn776His | |
| NR_103740.2:n.2768A>C | ||
| NM_015657.4:c.1372A>C | NP_056472.2:p.Asn458His |