Linked Data
dbSNP Id:
rs556771929
ExAC:
22:50658895 G / C
gnomAD v2:
22-50658895-G-C
gnomAD v3:
22-50220466-G-C
gnomAD v4:
22-50220466-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220466G>C , CM000684.2:g.50220466G>C | GRCh38 |
| NC_000022.10:g.50658895G>C , CM000684.1:g.50658895G>C | GRCh37 |
| NC_000022.9:g.49001022G>C | NCBI36 |
| NG_032160.1:g.29506C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3893C>G MANE Select | ENSP00000248846.5:p.Pro1298Arg | |
| ENST00000248846.9:c.3893C>G | ENSP00000248846.5:p.Pro1298Arg | |
| ENST00000439308.6:c.3893C>G | ENSP00000397387.2:p.Pro1298Arg | |
| ENST00000491449.5:n.2200C>G | ||
| ENST00000498611.5:n.3618-451C>G | ||
| NM_020461.3:c.3893C>G | NP_065194.2:p.Pro1298Arg | |
| XR_938347.1:n.4458C>G | ||
| XR_938348.1:n.3050-451C>G | ||
| XR_001755343.2:n.4462C>G | ||
| XR_001755344.2:n.4462C>G | ||
| XR_002958720.1:n.3054-451C>G | ||
| XR_938347.2:n.4462C>G | ||
| NM_020461.4:c.3893C>G MANE Select | NP_065194.3:p.Pro1298Arg |