Linked Data
dbSNP Id:
rs968043469
gnomAD v2:
17-41053039-T-A
gnomAD v3:
17-42901022-T-A
gnomAD v4:
17-42901022-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42901022T>A , CM000679.2:g.42901022T>A | GRCh38 |
| NC_000017.10:g.41053039T>A , CM000679.1:g.41053039T>A | GRCh37 |
| NC_000017.9:g.38306565T>A | NCBI36 |
| NG_011808.1:g.5225T>A , LRG_147:g.5225T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253801.7:c.146T>A MANE Select | ENSP00000253801.1:p.Ile49Asn | |
| ENST00000253801.6:c.146T>A | ENSP00000253801.1:p.Ile49Asn | |
| ENST00000585489.1:c.146T>A | ENSP00000466202.1:p.Ile49Asn | |
| ENST00000588481.1:n.211T>A | ||
| ENST00000592383.5:c.146T>A | ENSP00000465958.1:p.Ile49Asn | |
| NM_000151.3:c.146T>A | NP_000142.2:p.Ile49Asn | |
| NM_001270397.1:c.146T>A | NP_001257326.1:p.Ile49Asn | |
| NM_000151.4:c.146T>A MANE Select | NP_000142.2:p.Ile49Asn | |
| NM_001270397.2:c.146T>A | NP_001257326.1:p.Ile49Asn |