Linked Data
dbSNP Id:
rs777059857
gnomAD v2:
15-89868889-C-T
gnomAD v3:
15-89325658-C-T
gnomAD v4:
15-89325658-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89325658C>T , CM000677.2:g.89325658C>T | GRCh38 |
| NC_000015.9:g.89868889C>T , CM000677.1:g.89868889C>T | GRCh37 |
| NC_000015.8:g.87669893C>T | NCBI36 |
| NG_008218.1:g.14138G>A | |
| NG_008218.2:g.14138G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1741G>A | ENSP00000516154.1:p.Asp581Asn | |
| ENST00000268124.11:c.1741G>A MANE Select | ENSP00000268124.5:p.Asp581Asn | |
| ENST00000530292.3:c.1342G>A | ENSP00000432885.2:p.Asp448Asn | |
| ENST00000635986.2:c.1741G>A | ENSP00000490653.2:p.Asp581Asn | |
| ENST00000636774.1:c.*308G>A | ENSP00000489799.1:n.*308G>A | |
| ENST00000637238.1:c.478G>A | ENSP00000490756.1:p.Asp160Asn | |
| ENST00000637264.1:c.813G>A | ||
| ENST00000666746.1:c.1318G>A | ||
| ENST00000670281.1:c.61G>A | ENSP00000499709.1:p.Asp21Asn | |
| ENST00000672071.1:n.1939G>A | ||
| ENST00000672923.2:n.1844G>A | ||
| ENST00000268124.9:c.1741G>A | ENSP00000268124.5:p.Asp581Asn | |
| ENST00000442287.6:c.1741G>A | ENSP00000399851.2:p.Asp581Asn | |
| ENST00000526314.2:c.123G>A | ||
| ENST00000631044.2:c.*1124G>A | ENSP00000486730.1:n.*1124G>A | |
| NM_001126131.1:c.1741G>A | NP_001119603.1:p.Asp581Asn | |
| NM_002693.2:c.1741G>A | NP_002684.1:p.Asp581Asn | |
| NM_001126131.2:c.1741G>A | NP_001119603.1:p.Asp581Asn | |
| NM_002693.3:c.1741G>A MANE Select | NP_002684.1:p.Asp581Asn |