Revel Score:
ENST00000331483 (MANE Select)
0.070
ENST00000436463
0.070
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00063427 (AMR)
Genomes Max Group AF
0.0000888 (AMR)
Exomes Max Group AF
0.00077268 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81855509C>T , CM000679.2:g.81855509C>T | GRCh38 |
| NC_000017.10:g.79813385C>T , CM000679.1:g.79813385C>T | GRCh37 |
| NC_000017.9:g.77406674C>T | NCBI36 |
| NG_042033.1:g.10160G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331483.9:c.430G>A MANE Select | ENSP00000327801.4:p.Ala144Thr | |
| ENST00000415593.6:c.354+3670G>A | ENSP00000388117.2:n.354+3670G>A | |
| ENST00000439918.7:c.355-230G>A | ENSP00000388374.2:n.355-230G>A | |
| ENST00000466567.3:n.5041G>A | ||
| ENST00000467086.6:n.1043G>A | ||
| ENST00000471535.2:n.441-230G>A | ||
| ENST00000472244.6:n.460G>A | ||
| ENST00000477607.7:n.622G>A | ||
| ENST00000570907.6:c.430G>A | ENSP00000461362.2:p.Ala144Thr | |
| ENST00000571617.2:c.430G>A | ENSP00000458300.2:p.Ala144Thr | |
| ENST00000573778.7:c.*245G>A | ENSP00000460088.3:n.*245G>A | |
| ENST00000574007.6:n.1092G>A | ||
| ENST00000574914.2:c.322G>A | ENSP00000460612.2:p.Ala108Thr | |
| ENST00000575069.6:c.*245G>A | ENSP00000459211.1:n.*245G>A | |
| ENST00000576052.2:c.352+3672G>A | ENSP00000461791.2:n.352+3672G>A | |
| ENST00000576380.6:c.*168-230G>A | ENSP00000460285.2:n.*168-230G>A | |
| ENST00000576390.6:c.430G>A | ENSP00000461718.2:p.Ala144Thr | |
| ENST00000576541.2:c.*289G>A | ENSP00000460741.2:n.*289G>A | |
| ENST00000679366.1:c.430G>A | ENSP00000506375.1:p.Ala144Thr | |
| ENST00000679396.1:n.557G>A | ||
| ENST00000679439.1:c.430G>A | ENSP00000505377.1:p.Ala144Thr | |
| ENST00000679455.1:c.*245G>A | ENSP00000505971.1:n.*245G>A | |
| ENST00000679470.1:n.517G>A | ||
| ENST00000679628.1:n.1419G>A | ||
| ENST00000679688.1:c.*51G>A | ENSP00000505272.1:n.*51G>A | |
| ENST00000679889.1:c.532G>A | ENSP00000506718.1:p.Ala178Thr | |
| ENST00000680076.1:n.528G>A | ||
| ENST00000680083.1:c.*164G>A | ENSP00000505575.1:n.*164G>A | |
| ENST00000680105.1:c.353-230G>A | ENSP00000506284.1:n.353-230G>A | |
| ENST00000680191.1:c.505G>A | ENSP00000506544.1:p.Ala169Thr | |
| ENST00000680208.1:n.534G>A | ||
| ENST00000680226.1:c.430G>A | ENSP00000505635.1:p.Ala144Thr | |
| ENST00000680259.1:c.*931G>A | ENSP00000504869.1:n.*931G>A | |
| ENST00000680368.1:n.1949G>A | ||
| ENST00000680400.1:c.-540G>A | ENSP00000505382.1:n.-540G>A | |
| ENST00000680416.1:c.*729G>A | ENSP00000506306.1:n.*729G>A | |
| ENST00000680547.1:n.1131G>A | ||
| ENST00000680559.1:n.1418G>A | ||
| ENST00000680593.1:c.430G>A | ENSP00000505754.1:p.Ala144Thr | |
| ENST00000680719.1:n.616G>A | ||
| ENST00000680732.1:c.353-230G>A | ENSP00000505727.1:n.353-230G>A | |
| ENST00000680799.1:n.479G>A | ||
| ENST00000680838.1:n.1121G>A | ||
| ENST00000680846.1:c.*51G>A | ENSP00000506612.1:n.*51G>A | |
| ENST00000680847.1:c.430G>A | ENSP00000506451.1:p.Ala144Thr | |
| ENST00000680884.1:c.532G>A | ENSP00000505953.1:p.Ala178Thr | |
| ENST00000680909.1:c.*757G>A | ENSP00000505545.1:n.*757G>A | |
| ENST00000680914.1:c.430G>A | ENSP00000505149.1:p.Ala144Thr | |
| ENST00000681020.1:c.430G>A | ENSP00000506014.1:p.Ala144Thr | |
| ENST00000681030.1:c.*683G>A | ENSP00000505707.1:n.*683G>A | |
| ENST00000681031.1:c.*219G>A | ENSP00000505466.1:n.*219G>A | |
| ENST00000681068.1:n.942G>A | ||
| ENST00000681161.1:c.223G>A | ENSP00000505659.1:p.Ala75Thr | |
| ENST00000681420.1:c.430G>A | ENSP00000505993.1:p.Ala144Thr | |
| ENST00000681485.1:n.667G>A | ||
| ENST00000681515.1:c.146-230G>A | ENSP00000505872.1:n.146-230G>A | |
| ENST00000681566.1:c.430G>A | ENSP00000506218.1:p.Ala144Thr | |
| ENST00000681571.1:n.1187G>A | ||
| ENST00000681614.1:n.651G>A | ||
| ENST00000681693.1:c.353-4G>A | ENSP00000505096.1:n.353-4G>A | |
| ENST00000681760.1:c.*245G>A | ENSP00000506555.1:n.*245G>A | |
| ENST00000681835.1:n.1603G>A | ||
| ENST00000681872.1:n.774-230G>A | ||
| ENST00000681933.1:c.*247G>A | ENSP00000504864.1:n.*247G>A | |
| ENST00000681954.1:n.989G>A | ||
| ENST00000331483.8:c.430G>A | ENSP00000327801.4:p.Ala144Thr | |
| ENST00000439918.6:c.355-230G>A | ENSP00000388374.2:n.355-230G>A | |
| ENST00000467086.5:n.678G>A | ||
| ENST00000472244.5:n.313G>A | ||
| ENST00000477607.6:n.502G>A | ||
| ENST00000570907.5:c.33+3672G>A | ENSP00000461362.1:n.33+3672G>A | |
| ENST00000571617.1:c.243+3781G>A | ENSP00000458300.1:n.243+3781G>A | |
| ENST00000573778.6:c.223G>A | ENSP00000460088.2:p.Ala75Thr | |
| ENST00000574007.5:n.628G>A | ||
| ENST00000574914.1:c.322G>A | ENSP00000460612.1:p.Ala108Thr | |
| ENST00000575069.5:c.*245G>A | ENSP00000459211.1:n.*245G>A | |
| ENST00000576052.1:c.354+3670G>A | ENSP00000461791.1:n.354+3670G>A | |
| ENST00000576380.5:c.34-230G>A | ENSP00000460285.1:n.34-230G>A | |
| ENST00000576390.5:c.233+3791G>A | ENSP00000461718.1:n.233+3791G>A | |
| ENST00000576541.1:c.353-4G>A | ENSP00000460741.1:n.353-4G>A | |
| NM_000918.3:c.430G>A | NP_000909.2:p.Ala144Thr | |
| XM_024450777.1:c.430G>A | XP_024306545.1:p.Ala144Thr | |
| XR_002958014.1:n.494G>A | ||
| NM_000918.4:c.430G>A MANE Select | NP_000909.2:p.Ala144Thr |