Linked Data
ClinVar Variation Id:
1001960
ClinVar RCV Id:
RCV001298319
dbSNP Id:
rs149389978
ExAC:
22:50659531 G / C
gnomAD v2:
22-50659531-G-C
gnomAD v3:
22-50221102-G-C
gnomAD v4:
22-50221102-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50221102G>C , CM000684.2:g.50221102G>C | GRCh38 |
| NC_000022.10:g.50659531G>C , CM000684.1:g.50659531G>C | GRCh37 |
| NC_000022.9:g.49001658G>C | NCBI36 |
| NG_032160.1:g.28870C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3257C>G MANE Select | ENSP00000248846.5:p.Ala1086Gly | |
| ENST00000248846.9:c.3257C>G | ENSP00000248846.5:p.Ala1086Gly | |
| ENST00000439308.6:c.3257C>G | ENSP00000397387.2:p.Ala1086Gly | |
| ENST00000491449.5:n.1564C>G | ||
| ENST00000498611.5:n.3617+173C>G | ||
| NM_020461.3:c.3257C>G | NP_065194.2:p.Ala1086Gly | |
| XR_938347.1:n.3822C>G | ||
| XR_938348.1:n.3049+926C>G | ||
| XR_001755343.2:n.3826C>G | ||
| XR_001755344.2:n.3826C>G | ||
| XR_002958720.1:n.3053+926C>G | ||
| XR_938347.2:n.3826C>G | ||
| NM_020461.4:c.3257C>G MANE Select | NP_065194.3:p.Ala1086Gly |