Revel Score:
ENST00000374044
0.002
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114790969T>A , CM000671.2:g.114790969T>A | GRCh38 |
| NC_000009.11:g.117553249T>A , CM000671.1:g.117553249T>A | GRCh37 |
| NC_000009.10:g.116593070T>A | NCBI36 |
| NG_011488.2:g.20160A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374045.5:c.302-63A>T MANE Select | ENSP00000363157.3:n.302-63A>T | |
| ENST00000374044.1:c.8A>T | ENSP00000363156.1:p.His3Leu | |
| ENST00000374045.4:c.302-63A>T | ENSP00000363157.3:n.302-63A>T | |
| NM_001204344.1:c.125-63A>T | NP_001191273.1:n.125-63A>T | |
| NM_005118.3:c.302-63A>T | NP_005109.2:n.302-63A>T | |
| NM_005118.4:c.302-63A>T MANE Select | NP_005109.2:n.302-63A>T |