Linked Data
dbSNP Id:
rs746195052
ExAC:
17:47486460 C / T
gnomAD v2:
17-47486460-C-T
gnomAD v3:
17-49409098-C-T
gnomAD v4:
17-49409098-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49409098C>T , CM000679.2:g.49409098C>T | GRCh38 |
| NC_000017.10:g.47486460C>T , CM000679.1:g.47486460C>T | GRCh37 |
| NC_000017.9:g.44841459C>T | NCBI36 |
| NG_023046.1:g.10783G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696365.1:c.417+37G>A | ENSP00000512581.1:n.417+37G>A | |
| ENST00000300408.8:c.454G>A MANE Select | ENSP00000300408.3:p.Asp152Asn | |
| ENST00000419140.7:c.454G>A | ENSP00000393320.3:p.Asp152Asn | |
| ENST00000434917.3:n.545G>A | ||
| ENST00000446735.6:c.292G>A | ENSP00000407828.2:p.Asp98Asn | |
| ENST00000504124.6:c.454G>A | ENSP00000426433.3:p.Asp152Asn | |
| ENST00000508009.6:n.545G>A | ||
| ENST00000511832.6:c.454G>A | ENSP00000425035.2:p.Asp152Asn | |
| ENST00000512041.7:c.454G>A | ENSP00000422182.3:p.Asp152Asn | |
| ENST00000614445.5:c.454G>A | ENSP00000479488.1:p.Asp152Asn | |
| ENST00000617874.5:c.454G>A | ENSP00000484113.1:p.Asp152Asn | |
| ENST00000300408.7:c.454G>A | ENSP00000300408.3:p.Asp152Asn | |
| ENST00000393345.8:n.505G>A | ||
| ENST00000419140.6:c.454G>A | ENSP00000393320.2:p.Asp152Asn | |
| ENST00000446735.5:c.454G>A | ENSP00000407828.1:p.Asp152Asn | |
| ENST00000504124.5:c.454G>A | ENSP00000426433.2:p.Asp152Asn | |
| ENST00000506273.1:n.409G>A | ||
| ENST00000508009.5:n.281G>A | ||
| ENST00000511832.5:c.417+37G>A | ENSP00000425035.1:n.417+37G>A | |
| ENST00000512041.6:c.454G>A | ENSP00000422182.2:p.Asp152Asn | |
| ENST00000614445.4:c.454G>A | ENSP00000479488.1:p.Asp152Asn | |
| ENST00000617874.4:c.454G>A | ENSP00000484113.1:p.Asp152Asn | |
| NM_001281496.1:c.454G>A | NP_001268425.1:p.Asp152Asn | |
| NM_001281497.1:c.417+37G>A | NP_001268426.1:n.417+37G>A | |
| NM_001281715.1:c.454G>A | NP_001268644.1:p.Asp152Asn | |
| NM_002634.3:c.454G>A | NP_002625.1:p.Asp152Asn | |
| XM_017024763.1:c.454G>A | XP_016880252.1:p.Asp152Asn | |
| NM_002634.4:c.454G>A MANE Select | NP_002625.1:p.Asp152Asn | |
| NM_001281496.2:c.454G>A | NP_001268425.1:p.Asp152Asn | |
| NM_001281497.2:c.417+37G>A | NP_001268426.1:n.417+37G>A | |
| NM_001281715.2:c.454G>A | NP_001268644.1:p.Asp152Asn |