Revel Score:
ENST00000339861
0.166
ENST00000420987
0.166
ENST00000455551
0.166
ENST00000343780
0.166
ENST00000450295
0.166
ENST00000438547
0.166
ENST00000356444
0.166
ENST00000422704 (MANE Select)
0.166
ENST00000420681
0.166
ENST00000433650
0.166
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004283 (AMR)
Genomes Max Group AF
0.0000226 (AMR)
Exomes Max Group AF
0.00002985 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.89402909C>A , CM000671.2:g.89402909C>A | GRCh38 |
| NC_000009.11:g.92017824C>A , CM000671.1:g.92017824C>A | GRCh37 |
| NC_000009.10:g.91207644C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422704.7:c.214G>T MANE Select | ENSP00000388768.2:p.Ala72Ser | |
| ENST00000339861.8:c.214G>T | ENSP00000344923.4:p.Ala72Ser | |
| ENST00000356444.6:c.214G>T | ENSP00000348822.2:p.Ala72Ser | |
| ENST00000420681.6:c.214G>T | ENSP00000390754.2:p.Ala72Ser | |
| ENST00000420987.5:c.214G>T | ENSP00000391733.1:p.Ala72Ser | |
| ENST00000422704.6:c.214G>T | ENSP00000388768.2:p.Ala72Ser | |
| ENST00000429836.5:c.214G>T | ENSP00000395222.1:p.Ala72Ser | |
| ENST00000433650.5:c.214G>T | ENSP00000413352.1:p.Ala72Ser | |
| ENST00000438547.6:c.214G>T | ENSP00000405102.2:p.Ala72Ser | |
| ENST00000450295.5:c.214G>T | ENSP00000416523.1:p.Ala72Ser | |
| ENST00000455551.6:c.214G>T | ENSP00000411981.2:p.Ala72Ser | |
| ENST00000537934.5:c.214G>T | ENSP00000446394.1:p.Ala72Ser | |
| NM_001142287.1:c.214G>T | NP_001135759.1:p.Ala72Ser | |
| NM_006378.3:c.214G>T | NP_006369.3:p.Ala72Ser | |
| XM_005251654.2:c.214G>T | XP_005251711.1:p.Ala72Ser | |
| XM_011518123.1:c.214G>T | XP_011516425.1:p.Ala72Ser | |
| XM_011518124.1:c.214G>T | XP_011516426.1:p.Ala72Ser | |
| XM_011518125.1:c.214G>T | XP_011516427.1:p.Ala72Ser | |
| XM_011518126.1:c.214G>T | XP_011516428.1:p.Ala72Ser | |
| XM_011518127.1:c.214G>T | XP_011516429.1:p.Ala72Ser | |
| XM_011518128.1:c.214G>T | XP_011516430.1:p.Ala72Ser | |
| XM_011518129.1:c.214G>T | XP_011516431.1:p.Ala72Ser | |
| XM_011518130.1:c.214G>T | XP_011516432.1:p.Ala72Ser | |
| XM_011518131.1:c.214G>T | XP_011516433.1:p.Ala72Ser | |
| XM_011518132.1:c.214G>T | XP_011516434.1:p.Ala72Ser | |
| XM_011518133.1:c.214G>T | XP_011516435.1:p.Ala72Ser | |
| XM_011518134.1:c.214G>T | XP_011516436.1:p.Ala72Ser | |
| XM_011518135.1:c.214G>T | XP_011516437.1:p.Ala72Ser | |
| XM_011518136.1:c.214G>T | XP_011516438.1:p.Ala72Ser | |
| XM_011518137.1:c.214G>T | XP_011516439.1:p.Ala72Ser | |
| XR_242562.2:n.980G>T | ||
| XR_929702.1:n.886G>T | ||
| XM_005251654.3:c.214G>T | XP_005251711.1:p.Ala72Ser | |
| XM_011518123.2:c.214G>T | XP_011516425.1:p.Ala72Ser | |
| XM_011518124.2:c.214G>T | XP_011516426.1:p.Ala72Ser | |
| XM_011518127.2:c.214G>T | XP_011516429.1:p.Ala72Ser | |
| XM_011518128.2:c.214G>T | XP_011516430.1:p.Ala72Ser | |
| XM_011518130.2:c.214G>T | XP_011516432.1:p.Ala72Ser | |
| XM_011518131.2:c.214G>T | XP_011516433.1:p.Ala72Ser | |
| XM_011518133.2:c.214G>T | XP_011516435.1:p.Ala72Ser | |
| XM_011518134.2:c.214G>T | XP_011516436.1:p.Ala72Ser | |
| XM_017014193.2:c.214G>T | XP_016869682.1:p.Ala72Ser | |
| XM_017014194.1:c.214G>T | XP_016869683.1:p.Ala72Ser | |
| XM_017014195.1:c.214G>T | XP_016869684.1:p.Ala72Ser | |
| XM_017014196.1:c.214G>T | XP_016869685.1:p.Ala72Ser | |
| XM_017014197.1:c.214G>T | XP_016869686.1:p.Ala72Ser | |
| XM_017014198.1:c.214G>T | XP_016869687.1:p.Ala72Ser | |
| XM_017014199.1:c.214G>T | XP_016869688.1:p.Ala72Ser | |
| XR_001746153.1:n.830G>T | ||
| XR_001746154.1:n.912G>T | ||
| XR_001746155.1:n.953G>T | ||
| XR_001746156.1:n.809G>T | ||
| XR_001746157.1:n.849G>T | ||
| XR_001746158.1:n.890G>T | ||
| XR_242562.4:n.980G>T | ||
| NM_001142287.2:c.214G>T | NP_001135759.1:p.Ala72Ser | |
| NM_001371194.2:c.214G>T MANE Select | NP_001358123.1:p.Ala72Ser | |
| NM_001371195.1:c.214G>T | NP_001358124.1:p.Ala72Ser | |
| NM_001371196.1:c.214G>T | NP_001358125.1:p.Ala72Ser | |
| NM_001371197.1:c.214G>T | NP_001358126.1:p.Ala72Ser | |
| NM_001371198.1:c.214G>T | NP_001358127.1:p.Ala72Ser | |
| NM_001371199.1:c.214G>T | NP_001358128.1:p.Ala72Ser | |
| NM_001371200.1:c.214G>T | NP_001358129.1:p.Ala72Ser | |
| NM_001371201.1:c.214G>T | NP_001358130.1:p.Ala72Ser | |
| NM_001371202.1:c.214G>T | NP_001358131.1:p.Ala72Ser | |
| NM_006378.4:c.214G>T | NP_006369.3:p.Ala72Ser | |
| NR_163884.1:n.905G>T | ||
| NR_163885.1:n.953G>T | ||
| NR_163886.1:n.842G>T | ||
| NR_163887.1:n.890G>T | ||
| NR_163888.1:n.980G>T | ||
| NR_163889.1:n.842G>T |