Revel Score:
ENST00000374708
0.445
ENST00000341947 (MANE Select)
0.445
ENST00000357486
0.445
ENST00000374714
0.445
ENST00000374713
0.445
ENST00000395197
0.445
ENST00000374712
0.445
ENST00000361917
0.445
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00050108 (EAS)
Genomes Max Group AF
0.00078494 (EAS)
Exomes Max Group AF
0.00039594 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33173349A>G , CM000668.2:g.33173349A>G | GRCh38 |
| NC_000006.11:g.33141126A>G , CM000668.1:g.33141126A>G | GRCh37 |
| NC_000006.10:g.33249104A>G | NCBI36 |
| NG_011589.1:g.24120T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.2735T>C MANE Select | ENSP00000339915.2:p.Val912Ala | |
| ENST00000341947.6:c.2735T>C | ENSP00000339915.2:p.Val912Ala | |
| ENST00000361917.5:c.2414T>C | ENSP00000355123.1:p.Val805Ala | |
| ENST00000374708.8:c.2477T>C | ENSP00000363840.4:p.Val826Ala | |
| ENST00000477772.1:n.272+3660T>C | ||
| NM_080679.2:c.2414T>C | NP_542410.2:p.Val805Ala | |
| NM_080680.2:c.2735T>C | NP_542411.2:p.Val912Ala | |
| NM_080681.2:c.2477T>C | NP_542412.2:p.Val826Ala | |
| XM_011514298.1:c.1889T>C | XP_011512600.1:p.Val630Ala | |
| XM_011514299.1:c.2021T>C | XP_011512601.1:p.Val674Ala | |
| XM_011514300.1:c.1841T>C | XP_011512602.1:p.Val614Ala | |
| XM_011514301.1:c.1778T>C | XP_011512603.1:p.Val593Ala | |
| XM_011514302.1:c.1622T>C | XP_011512604.1:p.Val541Ala | |
| XM_011514299.2:c.2021T>C | XP_011512601.1:p.Val674Ala | |
| XM_011514300.2:c.1841T>C | XP_011512602.1:p.Val614Ala | |
| XM_011514302.2:c.1622T>C | XP_011512604.1:p.Val541Ala | |
| XM_017010250.1:c.2735T>C | XP_016865739.1:p.Val912Ala | |
| XM_017010251.2:c.1553T>C | XP_016865740.1:p.Val518Ala | |
| NM_080680.3:c.2735T>C MANE Select | NP_542411.2:p.Val912Ala | |
| NM_080681.3:c.2477T>C | NP_542412.2:p.Val826Ala | |
| NM_080679.3:c.2414T>C | NP_542410.2:p.Val805Ala |