Linked Data
dbSNP Id:
rs72547509
ExAC:
15:75013026 A / T
gnomAD v2:
15-75013026-A-T
gnomAD v4:
15-74720685-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74720685A>T , CM000677.2:g.74720685A>T | GRCh38 |
| NC_000015.9:g.75013026A>T , CM000677.1:g.75013026A>T | GRCh37 |
| NC_000015.8:g.72800079A>T | NCBI36 |
| NG_008431.1:g.3144A>T | |
| NG_008431.2:g.3144A>T | |
| NG_061374.1:g.9844T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379727.8:c.1343T>A MANE Select | ENSP00000369050.3:p.Ile448Asn | |
| ENST00000379727.7:c.1343T>A | ENSP00000369050.3:p.Ile448Asn | |
| ENST00000395048.6:c.1343T>A | ENSP00000378488.2:p.Ile448Asn | |
| ENST00000395049.8:c.1256T>A | ENSP00000378489.4:p.Ile419Asn | |
| ENST00000567032.5:c.1343T>A | ENSP00000456585.1:p.Ile448Asn | |
| ENST00000612821.4:c.1259T>A | ENSP00000479744.1:p.Ile420Asn | |
| ENST00000617691.4:c.1256T>A | ENSP00000482863.1:p.Ile419Asn | |
| NM_000499.3:c.1343T>A | NP_000490.1:p.Ile448Asn | |
| XM_005254185.1:c.1343T>A | XP_005254242.1:p.Ile448Asn | |
| NM_000499.5:c.1343T>A | NP_000490.1:p.Ile448Asn | |
| NM_001319216.2:c.1256T>A | NP_001306145.1:p.Ile419Asn | |
| NM_001319217.2:c.1343T>A MANE Select | NP_001306146.1:p.Ile448Asn |