Revel Score:
ENST00000221992 (MANE Select)
0.068
ENST00000405816
0.068
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16151327 (AFR)
Genomes Max Group AF
0.15855233 (AFR)
Exomes Max Group AF
0.16295396 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41717515C>A , CM000681.2:g.41717515C>A | GRCh38 |
| NC_000019.9:g.42221434C>A , CM000681.1:g.42221434C>A | GRCh37 |
| NC_000019.8:g.46913274C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221992.11:c.1019C>A MANE Select | ENSP00000221992.5:p.Ala340Asp | |
| ENST00000221992.10:c.1019C>A | ENSP00000221992.5:p.Ala340Asp | |
| ENST00000398599.8:c.1016C>A | ENSP00000381600.4:p.Ala339Asp | |
| ENST00000405816.5:c.1019C>A | ENSP00000385072.1:p.Ala340Asp | |
| ENST00000435837.2:c.64+8720C>A | ENSP00000469926.1:n.64+8720C>A | |
| ENST00000595113.1:c.466C>A | ||
| ENST00000595403.1:c.325-2415C>A | ||
| ENST00000598976.1:c.424+7476C>A | ENSP00000469421.1:n.424+7476C>A | |
| ENST00000615021.4:c.485C>A | ENSP00000482157.1:p.Ala162Asp | |
| ENST00000616453.1:c.612+2357C>A | ENSP00000480800.1:n.612+2357C>A | |
| ENST00000617332.4:c.1019C>A | ENSP00000482303.1:p.Ala340Asp | |
| NM_001291484.1:c.1019C>A | NP_001278413.1:p.Ala340Asp | |
| NM_001291484.2:c.1019C>A | NP_001278413.1:p.Ala340Asp | |
| NM_001308398.1:c.1016C>A | NP_001295327.1:p.Ala339Asp | |
| NM_004363.4:c.1019C>A | NP_004354.3:p.Ala340Asp | |
| NM_004363.5:c.1019C>A | NP_004354.3:p.Ala340Asp | |
| XM_005258413.3:c.1019C>A | XP_005258470.2:p.Ala340Asp | |
| XM_011526322.1:c.704-613C>A | XP_011524624.1:n.704-613C>A | |
| XM_011526322.2:c.704-613C>A | XP_011524624.1:n.704-613C>A | |
| XM_017026145.2:c.1016C>A | XP_016881634.1:p.Ala339Asp | |
| XM_017026146.2:c.764C>A | XP_016881635.1:p.Ala255Asp | |
| NM_001291484.3:c.1019C>A | NP_001278413.1:p.Ala340Asp | |
| NM_001308398.2:c.1016C>A | NP_001295327.1:p.Ala339Asp | |
| NM_004363.6:c.1019C>A MANE Select | NP_004354.3:p.Ala340Asp |