Revel Score:
ENST00000369911
0.579
ENST00000360864 (MANE Select)
0.579
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63930873T>A , CM000682.2:g.63930873T>A | GRCh38 |
| NC_000020.10:g.62562226T>A , CM000682.1:g.62562226T>A | GRCh37 |
| NC_000020.9:g.62032670T>A | NCBI36 |
| NG_029805.1:g.40772T>A | |
| NG_029805.2:g.40772T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703637.1:c.344T>A | ENSP00000515413.1:p.Leu115His | |
| ENST00000360864.9:c.344T>A MANE Select | ENSP00000354111.4:p.Leu115His | |
| ENST00000360864.8:c.344T>A | ENSP00000354111.4:p.Leu115His | |
| ENST00000470551.1:c.344T>A | ENSP00000434744.1:p.Leu115His | |
| NM_025219.2:c.344T>A | NP_079495.1:p.Leu115His | |
| XM_011529048.1:c.344T>A | XP_011527350.1:p.Leu115His | |
| XM_011529049.1:c.344T>A | XP_011527351.1:p.Leu115His | |
| XM_011529050.1:c.344T>A | XP_011527352.1:p.Leu115His | |
| XR_936629.1:n.976T>A | ||
| XR_936630.1:n.1234T>A | ||
| XM_011529048.2:c.344T>A | XP_011527350.1:p.Leu115His | |
| XR_936629.2:n.989T>A | ||
| NM_025219.3:c.344T>A MANE Select | NP_079495.1:p.Leu115His |