Linked Data
dbSNP Id:
rs530931616
ExAC:
7:93055784 C / T
gnomAD v2:
7-93055784-C-T
gnomAD v3:
7-93426472-C-T
gnomAD v4:
7-93426472-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.93426472C>T , CM000669.2:g.93426472C>T | GRCh38 |
| NC_000007.13:g.93055784C>T , CM000669.1:g.93055784C>T | GRCh37 |
| NC_000007.12:g.92893720C>T | NCBI36 |
| NG_013005.1:g.153259G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426151.7:c.1309G>A MANE Select | ENSP00000389295.1:p.Asp437Asn | |
| ENST00000649521.1:c.1357G>A | ENSP00000497687.1:p.Asp453Asn | |
| ENST00000359558.6:c.1411G>A | ENSP00000352561.2:p.Asp471Asn | |
| ENST00000360249.8:c.*819G>A | ENSP00000353385.5:n.*819G>A | |
| ENST00000394441.5:c.1309G>A | ENSP00000377959.1:p.Asp437Asn | |
| ENST00000415529.2:c.1359G>A | ENSP00000413179.1:n.1359G>A | |
| ENST00000421592.5:c.1357G>A | ENSP00000399552.1:p.Asp453Asn | |
| ENST00000423724.5:c.1407G>A | ENSP00000391369.1:n.1407G>A | |
| ENST00000426151.5:c.1309G>A | ENSP00000389295.1:p.Asp437Asn | |
| NM_001164737.1:c.1411G>A | NP_001158209.1:p.Asp471Asn | |
| NM_001164738.1:c.1309G>A | NP_001158210.1:p.Asp437Asn | |
| NM_001742.3:c.1309G>A | NP_001733.1:p.Asp437Asn | |
| NM_001164737.2:c.1357G>A | NP_001158209.2:p.Asp453Asn | |
| NM_001742.4:c.1309G>A MANE Select | NP_001733.1:p.Asp437Asn | |
| NM_001164737.3:c.1357G>A | NP_001158209.2:p.Asp453Asn | |
| NM_001164738.2:c.1309G>A | NP_001158210.1:p.Asp437Asn |