COSMIC:
COSM4551044 (not active)
COSM4551045 (not active)
COSM4551046 (not active)
COSM4551047 (not active)
Revel Score:
ENST00000360228 (MANE Select)
0.383
ENST00000418012
0.383
ENST00000357018
0.383
ENST00000325084
0.383
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020974 (AFR)
Genomes Max Group AF
0.00026061 (AFR)
Exomes Max Group AF
0.00007714 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13235000C>T , CM000681.2:g.13235000C>T | GRCh38 |
| NC_000019.9:g.13345814C>T , CM000681.1:g.13345814C>T | GRCh37 |
| NC_000019.8:g.13206814C>T | NCBI36 |
| NG_011569.1:g.276461G>A , LRG_7:g.276461G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.5170G>A MANE Select | ENSP00000353362.5:p.Asp1724Asn | |
| ENST00000573710.7:c.5176G>A | ENSP00000460092.3:p.Asp1726Asn | |
| ENST00000573891.6:c.589G>A | ||
| ENST00000574822.6:n.394G>A | ||
| ENST00000585802.6:c.331G>A | ENSP00000465598.2:p.Asp111Asn | |
| ENST00000593267.2:n.375G>A | ||
| ENST00000635727.1:c.5173G>A | ENSP00000490001.1:p.Asp1725Asn | |
| ENST00000635742.1:n.1159G>A | ||
| ENST00000635895.1:c.5173G>A | ENSP00000490323.1:p.Asp1725Asn | |
| ENST00000636012.1:c.5173G>A | ENSP00000490223.1:p.Asp1725Asn | |
| ENST00000636058.1:c.485G>A | ||
| ENST00000636389.1:c.5173G>A | ENSP00000489992.1:p.Asp1725Asn | |
| ENST00000636473.1:c.265G>A | ENSP00000490173.1:p.Asp89Asn | |
| ENST00000636549.1:c.5179G>A | ENSP00000490578.1:p.Asp1727Asn | |
| ENST00000637276.1:c.5173G>A | ENSP00000489777.1:p.Asp1725Asn | |
| ENST00000637297.1:c.466G>A | ENSP00000489692.1:p.Asp156Asn | |
| ENST00000637432.1:c.5188G>A | ENSP00000490617.1:p.Asp1730Asn | |
| ENST00000637736.1:c.5032G>A | ENSP00000489861.1:p.Asp1678Asn | |
| ENST00000637769.1:c.5173G>A | ENSP00000489778.1:p.Asp1725Asn | |
| ENST00000637777.1:c.364G>A | ||
| ENST00000637809.1:n.563G>A | ||
| ENST00000637819.1:c.574G>A | ENSP00000490686.1:p.Asp192Asn | |
| ENST00000637832.1:n.164G>A | ||
| ENST00000637927.1:c.5176G>A | ENSP00000489715.1:p.Asp1726Asn | |
| ENST00000638009.2:c.5173G>A | ENSP00000489913.1:p.Asp1725Asn | |
| ENST00000638029.1:c.5188G>A | ENSP00000489829.1:p.Asp1730Asn | |
| ENST00000664864.1:c.5374G>A | ENSP00000499449.1:p.Asp1792Asn | |
| ENST00000360228.9:c.5170G>A | ENSP00000353362.5:p.Asp1724Asn | |
| ENST00000573710.6:c.5173G>A | ENSP00000460092.2:p.Asp1725Asn | |
| ENST00000573891.5:c.589G>A | ||
| ENST00000574822.5:n.394G>A | ||
| ENST00000585802.5:c.1228G>A | ENSP00000465598.1:p.Asp410Asn | |
| ENST00000587525.5:c.631G>A | ENSP00000467729.1:p.Asp211Asn | |
| ENST00000593267.1:n.375G>A | ||
| ENST00000614285.4:c.5188G>A | ENSP00000479983.1:p.Asp1730Asn | |
| NM_000068.3:c.5188G>A | NP_000059.3:p.Asp1730Asn | |
| NM_001127221.1:c.5173G>A , LRG_7t1:c.5173G>A | NP_001120693.1:p.Asp1725Asn | |
| NM_001127222.1:c.5170G>A | NP_001120694.1:p.Asp1724Asn | |
| NM_001174080.1:c.5179G>A | NP_001167551.1:p.Asp1727Asn | |
| NM_023035.2:c.5188G>A | NP_075461.2:p.Asp1730Asn | |
| NM_000068.4:c.5188G>A | NP_000059.3:p.Asp1730Asn | |
| NM_001127222.2:c.5170G>A MANE Select | NP_001120694.1:p.Asp1724Asn | |
| NM_001174080.2:c.5179G>A | NP_001167551.1:p.Asp1727Asn | |
| NM_023035.3:c.5188G>A | NP_075461.2:p.Asp1730Asn | |
| NM_001127221.2:c.5173G>A | NP_001120693.1:p.Asp1725Asn |