Linked Data
ClinVar Variation Id:
386310
dbSNP Id:
rs761560224
ExAC:
19:13323227 C / T
gnomAD v2:
19-13323227-C-T
gnomAD v3:
19-13212413-C-T
gnomAD v4:
19-13212413-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13212413C>T , CM000681.2:g.13212413C>T | GRCh38 |
| NC_000019.9:g.13323227C>T , CM000681.1:g.13323227C>T | GRCh37 |
| NC_000019.8:g.13184227C>T | NCBI36 |
| NG_011569.1:g.299048G>A , LRG_7:g.299048G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.6160G>A MANE Select | ENSP00000353362.5:p.Asp2054Asn | |
| ENST00000573710.7:c.6166G>A | ENSP00000460092.3:p.Asp2056Asn | |
| ENST00000585802.6:c.1321G>A | ENSP00000465598.2:p.Asp441Asn | |
| ENST00000635727.1:c.6163G>A | ENSP00000490001.1:p.Asp2055Asn | |
| ENST00000635895.1:c.6163G>A | ENSP00000490323.1:p.Asp2055Asn | |
| ENST00000636012.1:c.6163G>A | ENSP00000490223.1:p.Asp2055Asn | |
| ENST00000636389.1:c.6163G>A | ENSP00000489992.1:p.Asp2055Asn | |
| ENST00000636473.1:c.1030G>A | ENSP00000490173.1:p.Asp344Asn | |
| ENST00000636549.1:c.6169G>A | ENSP00000490578.1:p.Asp2057Asn | |
| ENST00000636610.1:n.1077G>A | ||
| ENST00000636768.1:c.690G>A | ENSP00000490190.1:n.690G>A | |
| ENST00000637276.1:c.6163G>A | ENSP00000489777.1:p.Asp2055Asn | |
| ENST00000637432.1:c.6178G>A | ENSP00000490617.1:p.Asp2060Asn | |
| ENST00000637736.1:c.6022G>A | ENSP00000489861.1:p.Asp2008Asn | |
| ENST00000637769.1:c.6163G>A | ENSP00000489778.1:p.Asp2055Asn | |
| ENST00000637927.1:c.6166G>A | ENSP00000489715.1:p.Asp2056Asn | |
| ENST00000638009.2:c.6163G>A | ENSP00000489913.1:p.Asp2055Asn | |
| ENST00000638029.1:c.6178G>A | ENSP00000489829.1:p.Asp2060Asn | |
| ENST00000664864.1:c.6364G>A | ENSP00000499449.1:p.Asp2122Asn | |
| ENST00000360228.9:c.6160G>A | ENSP00000353362.5:p.Asp2054Asn | |
| ENST00000573710.6:c.6163G>A | ENSP00000460092.2:p.Asp2055Asn | |
| ENST00000585802.5:c.2218G>A | ENSP00000465598.1:p.Asp740Asn | |
| ENST00000587525.5:c.1621G>A | ENSP00000467729.1:p.Asp541Asn | |
| ENST00000614285.4:c.6178G>A | ENSP00000479983.1:p.Asp2060Asn | |
| NM_000068.3:c.6178G>A | NP_000059.3:p.Asp2060Asn | |
| NM_001127221.1:c.6163G>A , LRG_7t1:c.6163G>A | NP_001120693.1:p.Asp2055Asn | |
| NM_001127222.1:c.6160G>A | NP_001120694.1:p.Asp2054Asn | |
| NM_001174080.1:c.6169G>A | NP_001167551.1:p.Asp2057Asn | |
| NM_023035.2:c.6178G>A | NP_075461.2:p.Asp2060Asn | |
| NM_000068.4:c.6178G>A | NP_000059.3:p.Asp2060Asn | |
| NM_001127222.2:c.6160G>A MANE Select | NP_001120694.1:p.Asp2054Asn | |
| NM_001174080.2:c.6169G>A | NP_001167551.1:p.Asp2057Asn | |
| NM_023035.3:c.6178G>A | NP_075461.2:p.Asp2060Asn | |
| NM_001127221.2:c.6163G>A | NP_001120693.1:p.Asp2055Asn |