Revel Score:
ENST00000375715
0.159
ENST00000375708 (MANE Select)
0.159
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00876894 (EAS)
Genomes Max Group AF
0.00193602 (EAS)
Exomes Max Group AF
0.00952671 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91724738C>T , CM000671.2:g.91724738C>T | GRCh38 |
| NC_000009.11:g.94487020C>T , CM000671.1:g.94487020C>T | GRCh37 |
| NC_000009.10:g.93526841C>T | NCBI36 |
| NG_008089.1:g.230425G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.1756G>A MANE Select | ENSP00000364860.3:p.Ala586Thr | |
| ENST00000375708.3:c.1756G>A | ENSP00000364860.3:p.Ala586Thr | |
| ENST00000375715.5:c.1336G>A | ENSP00000364867.1:p.Ala446Thr | |
| ENST00000550066.5:n.2224G>A | ||
| NM_004560.3:c.1756G>A | NP_004551.2:p.Ala586Thr | |
| XM_005252008.3:c.1336G>A | XP_005252065.1:p.Ala446Thr | |
| XM_005252009.3:c.553G>A | XP_005252066.1:p.Ala185Thr | |
| XM_006717121.2:c.1336G>A | XP_006717184.1:p.Ala446Thr | |
| XM_011518721.1:c.1336G>A | XP_011517023.1:p.Ala446Thr | |
| XM_005252008.4:c.1336G>A | XP_005252065.1:p.Ala446Thr | |
| XM_006717121.3:c.1336G>A | XP_006717184.1:p.Ala446Thr | |
| XM_017014762.1:c.1747G>A | XP_016870251.1:p.Ala583Thr | |
| XM_017014763.1:c.1336G>A | XP_016870252.1:p.Ala446Thr | |
| NM_004560.4:c.1756G>A MANE Select | NP_004551.2:p.Ala586Thr |