Revel Score:
ENST00000225964 (MANE Select)
0.893
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50186429G>T , CM000679.2:g.50186429G>T | GRCh38 |
| NC_000017.10:g.48263790G>T , CM000679.1:g.48263790G>T | GRCh37 |
| NC_000017.9:g.45618789G>T | NCBI36 |
| NG_007400.1:g.20211C>A , LRG_1:g.20211C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.3893C>A MANE Select | ENSP00000225964.6:p.Thr1298Asn | |
| ENST00000225964.9:c.3893C>A | ENSP00000225964.5:p.Thr1298Asn | |
| ENST00000510710.3:n.562C>A | ||
| NM_000088.3:c.3893C>A , LRG_1t1:c.3893C>A | NP_000079.2:p.Thr1298Asn | |
| XM_005257058.3:c.3623C>A | XP_005257115.2:p.Thr1208Asn | |
| XM_005257059.3:c.2975C>A | XP_005257116.2:p.Thr992Asn | |
| XM_011524341.1:c.3695C>A | XP_011522643.1:p.Thr1232Asn | |
| XM_005257058.4:c.3623C>A | XP_005257115.2:p.Thr1208Asn | |
| XM_005257059.4:c.2975C>A | XP_005257116.2:p.Thr992Asn | |
| NM_000088.4:c.3893C>A MANE Select | NP_000079.2:p.Thr1298Asn |