Revel Score:
ENST00000335508 (MANE Select)
0.561
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197402108T>G , CM000664.2:g.197402108T>G | GRCh38 |
| NC_000002.11:g.198266832T>G , CM000664.1:g.198266832T>G | GRCh37 |
| NC_000002.10:g.197975077T>G | NCBI36 |
| NG_032903.2:g.37940A>C , LRG_624:g.37940A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335508.11:c.2100A>C MANE Select | ENSP00000335321.6:p.Lys700Asn | |
| ENST00000470268.2:n.3984A>C | ||
| ENST00000652026.1:c.*3167A>C | ENSP00000498652.1:n.*3167A>C | |
| ENST00000652738.1:c.*2359A>C | ENSP00000499119.1:n.*2359A>C | |
| ENST00000335508.10:c.2100A>C | ENSP00000335321.5:p.Lys700Asn | |
| ENST00000462613.1:n.55A>C | ||
| NM_012433.2:c.2100A>C | NP_036565.2:p.Lys700Asn | |
| NM_012433.3:c.2100A>C , LRG_624t2:c.2100A>C | NP_036565.2:p.Lys700Asn | |
| XM_011510867.1:c.1662A>C | XP_011509169.1:p.Lys554Asn | |
| XM_011510868.1:c.1662A>C | XP_011509170.1:p.Lys554Asn | |
| XR_241300.2:n.2192A>C | ||
| XR_001738680.2:n.2145A>C | ||
| NM_012433.4:c.2100A>C MANE Select | NP_036565.2:p.Lys700Asn |