Revel Score:
ENST00000538371
0.041
ENST00000339560
0.041
ENST00000254320
0.041
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13935791C>T , CM000681.2:g.13935791C>T | GRCh38 |
| NC_000019.9:g.14046604C>T , CM000681.1:g.14046604C>T | GRCh37 |
| NC_000019.8:g.13907604C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588872.3:c.424G>A MANE Select | ENSP00000467395.2:p.Val142Ile | |
| ENST00000339560.10:c.424G>A | ENSP00000345175.5:p.Val142Ile | |
| ENST00000588872.2:c.424G>A | ENSP00000467395.2:p.Val142Ile | |
| ENST00000254320.7:c.199G>A | ENSP00000254320.3:p.Val67Ile | |
| ENST00000339560.9:c.445G>A | ENSP00000345175.4:p.Val149Ile | |
| ENST00000538371.6:c.439G>A | ENSP00000442553.1:p.Val147Ile | |
| ENST00000538517.6:c.399+189G>A | ENSP00000440080.1:n.399+189G>A | |
| ENST00000585607.1:c.334+576G>A | ENSP00000466659.1:n.334+576G>A | |
| ENST00000586075.1:c.159+576G>A | ENSP00000468151.1:n.159+576G>A | |
| ENST00000587288.1:n.235G>A | ||
| ENST00000588764.5:c.50+189G>A | ||
| NM_001146254.1:c.439G>A | NP_001139726.1:p.Val147Ile | |
| NM_001146255.1:c.399+189G>A | NP_001139727.1:n.399+189G>A | |
| NM_024825.3:c.445G>A | NP_079101.3:p.Val149Ile | |
| XM_006722901.1:c.445G>A | XP_006722964.1:p.Val149Ile | |
| XM_006722902.1:c.405+189G>A | XP_006722965.1:n.405+189G>A | |
| XM_006722903.1:c.405+189G>A | XP_006722966.1:n.405+189G>A | |
| XM_011528308.1:c.439G>A | XP_011526610.1:p.Val147Ile | |
| XM_011528309.1:c.380G>A | XP_011526611.1:p.Cys127Tyr | |
| XM_011528310.1:c.380G>A | XP_011526612.1:p.Cys127Tyr | |
| XM_011528311.1:c.405+189G>A | XP_011526613.1:n.405+189G>A | |
| XM_011528312.1:c.257G>A | XP_011526614.1:p.Cys86Tyr | |
| XM_011528313.1:c.199G>A | XP_011526615.1:p.Val67Ile | |
| XM_011528314.1:c.224+189G>A | XP_011526616.1:n.224+189G>A | |
| XM_011528315.1:c.-27G>A | XP_011526617.1:n.-27G>A | |
| XM_011528316.1:c.159+576G>A | XP_011526618.1:n.159+576G>A | |
| NM_024825.4:c.424G>A | NP_079101.4:p.Val142Ile | |
| XM_011528309.2:c.380G>A | XP_011526611.1:p.Cys127Tyr | |
| XM_011528310.2:c.380G>A | XP_011526612.1:p.Cys127Tyr | |
| XM_017027313.1:c.224+189G>A | XP_016882802.1:n.224+189G>A | |
| XM_024451726.1:c.405+189G>A | XP_024307494.1:n.405+189G>A | |
| NM_001370095.1:c.445G>A | NP_001357024.1:p.Val149Ile | |
| NM_001146254.2:c.439G>A | NP_001139726.1:p.Val147Ile | |
| NM_001146255.2:c.399+189G>A | NP_001139727.1:n.399+189G>A | |
| NM_001370095.3:c.424G>A MANE Select | NP_001357024.2:p.Val142Ile | |
| NM_024825.5:c.424G>A | NP_079101.4:p.Val142Ile |