Linked Data
dbSNP Id:
rs145033260
ExAC:
22:50659502 C / T
gnomAD v2:
22-50659502-C-T
gnomAD v4:
22-50221073-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50221073C>T , CM000684.2:g.50221073C>T | GRCh38 |
| NC_000022.10:g.50659502C>T , CM000684.1:g.50659502C>T | GRCh37 |
| NC_000022.9:g.49001629C>T | NCBI36 |
| NG_032160.1:g.28899G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248846.10:c.3286G>A MANE Select | ENSP00000248846.5:p.Asp1096Asn | |
| ENST00000248846.9:c.3286G>A | ENSP00000248846.5:p.Asp1096Asn | |
| ENST00000439308.6:c.3286G>A | ENSP00000397387.2:p.Asp1096Asn | |
| ENST00000491449.5:n.1593G>A | ||
| ENST00000498611.5:n.3617+202G>A | ||
| NM_020461.3:c.3286G>A | NP_065194.2:p.Asp1096Asn | |
| XR_938347.1:n.3851G>A | ||
| XR_938348.1:n.3049+955G>A | ||
| XR_001755343.2:n.3855G>A | ||
| XR_001755344.2:n.3855G>A | ||
| XR_002958720.1:n.3053+955G>A | ||
| XR_938347.2:n.3855G>A | ||
| NM_020461.4:c.3286G>A MANE Select | NP_065194.3:p.Asp1096Asn |