ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13245235C>T , CM000681.2:g.13245235C>T | GRCh38 |
| NC_000019.9:g.13356049C>T , CM000681.1:g.13356049C>T | GRCh37 |
| NC_000019.8:g.13217049C>T | NCBI36 |
| NG_011569.1:g.266226G>A , LRG_7:g.266226G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.4897G>A MANE Select | ENSP00000353362.5:p.Asp1633Asn | |
| ENST00000573710.7:c.4903G>A | ENSP00000460092.3:p.Asp1635Asn | |
| ENST00000573891.6:c.146G>A | ||
| ENST00000574822.6:n.121G>A | ||
| ENST00000585802.6:c.52G>A | ENSP00000465598.2:p.Asp18Asn | |
| ENST00000635727.1:c.4900G>A | ENSP00000490001.1:p.Asp1634Asn | |
| ENST00000635742.1:n.886G>A | ||
| ENST00000635895.1:c.4900G>A | ENSP00000490323.1:p.Asp1634Asn | |
| ENST00000636012.1:c.4900G>A | ENSP00000490223.1:p.Asp1634Asn | |
| ENST00000636058.1:c.36G>A | ||
| ENST00000636389.1:c.4900G>A | ENSP00000489992.1:p.Asp1634Asn | |
| ENST00000636473.1:c.52G>A | ENSP00000490173.1:p.Asp18Asn | |
| ENST00000636549.1:c.4900G>A | ENSP00000490578.1:p.Asp1634Asn | |
| ENST00000637004.1:n.1363G>A | ||
| ENST00000637276.1:c.4900G>A | ENSP00000489777.1:p.Asp1634Asn | |
| ENST00000637297.1:c.247-9505G>A | ENSP00000489692.1:n.247-9505G>A | |
| ENST00000637432.1:c.4909G>A | ENSP00000490617.1:p.Asp1637Asn | |
| ENST00000637475.1:n.411G>A | ||
| ENST00000637692.1:n.1219G>A | ||
| ENST00000637736.1:c.4759G>A | ENSP00000489861.1:p.Asp1587Asn | |
| ENST00000637769.1:c.4900G>A | ENSP00000489778.1:p.Asp1634Asn | |
| ENST00000637809.1:n.284G>A | ||
| ENST00000637819.1:c.295G>A | ENSP00000490686.1:p.Asp99Asn | |
| ENST00000637927.1:c.4903G>A | ENSP00000489715.1:p.Asp1635Asn | |
| ENST00000638009.2:c.4900G>A | ENSP00000489913.1:p.Asp1634Asn | |
| ENST00000638029.1:c.4909G>A | ENSP00000489829.1:p.Asp1637Asn | |
| ENST00000664864.1:c.5095G>A | ENSP00000499449.1:p.Asp1699Asn | |
| ENST00000360228.9:c.4897G>A | ENSP00000353362.5:p.Asp1633Asn | |
| ENST00000573710.6:c.4900G>A | ENSP00000460092.2:p.Asp1634Asn | |
| ENST00000573891.5:c.146G>A | ||
| ENST00000574822.5:n.121G>A | ||
| ENST00000585802.5:c.955G>A | ENSP00000465598.1:p.Asp319Asn | |
| ENST00000587525.5:c.358G>A | ENSP00000467729.1:p.Asp120Asn | |
| ENST00000614285.4:c.4909G>A | ENSP00000479983.1:p.Asp1637Asn | |
| NM_000068.3:c.4909G>A | NP_000059.3:p.Asp1637Asn | |
| NM_001127221.1:c.4900G>A , LRG_7t1:c.4900G>A | NP_001120693.1:p.Asp1634Asn | |
| NM_001127222.1:c.4897G>A | NP_001120694.1:p.Asp1633Asn | |
| NM_001174080.1:c.4900G>A | NP_001167551.1:p.Asp1634Asn | |
| NM_023035.2:c.4909G>A | NP_075461.2:p.Asp1637Asn | |
| NM_000068.4:c.4909G>A | NP_000059.3:p.Asp1637Asn | |
| NM_001127222.2:c.4897G>A MANE Select | NP_001120694.1:p.Asp1633Asn | |
| NM_001174080.2:c.4900G>A | NP_001167551.1:p.Asp1634Asn | |
| NM_023035.3:c.4909G>A | NP_075461.2:p.Asp1637Asn | |
| NM_001127221.2:c.4900G>A | NP_001120693.1:p.Asp1634Asn |