Linked Data
dbSNP Id:
rs530739592
ExAC:
22:50662831 C / T
gnomAD v2:
22-50662831-C-T
gnomAD v3:
22-50224402-C-T
gnomAD v4:
22-50224402-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50224402C>T , CM000684.2:g.50224402C>T | GRCh38 |
| NC_000022.10:g.50662831C>T , CM000684.1:g.50662831C>T | GRCh37 |
| NC_000022.9:g.49004958C>T | NCBI36 |
| NG_032160.1:g.25570G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.2084G>A MANE Select | ENSP00000248846.5:p.Arg695Gln | |
| ENST00000248846.9:c.2084G>A | ENSP00000248846.5:p.Arg695Gln | |
| ENST00000439308.6:c.2084G>A | ENSP00000397387.2:p.Arg695Gln | |
| ENST00000473946.1:n.393G>A | ||
| ENST00000489511.5:n.101G>A | ||
| ENST00000491449.5:n.391G>A | ||
| ENST00000498611.5:n.2617G>A | ||
| NM_020461.3:c.2084G>A | NP_065194.2:p.Arg695Gln | |
| XR_938347.1:n.2649G>A | ||
| XR_938348.1:n.2649G>A | ||
| XR_001755343.2:n.2653G>A | ||
| XR_001755344.2:n.2653G>A | ||
| XR_002958720.1:n.2653G>A | ||
| XR_938347.2:n.2653G>A | ||
| NM_020461.4:c.2084G>A MANE Select | NP_065194.3:p.Arg695Gln |