Linked Data
ClinVar Variation Id:
228387
dbSNP Id:
rs876657717
gnomAD v2:
2-223096921-C-T
gnomAD v4:
2-222232202-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.222232202C>T , CM000664.2:g.222232202C>T | GRCh38 |
| NC_000002.11:g.223096921C>T , CM000664.1:g.223096921C>T | GRCh37 |
| NC_000002.10:g.222805165C>T | NCBI36 |
| NG_011632.1:g.71780G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336840.11:c.668G>A | ENSP00000338767.5:p.Arg223Gln | |
| ENST00000344493.9:c.668G>A | ENSP00000342092.4:p.Arg223Gln | |
| ENST00000350526.9:c.668G>A | ENSP00000343052.4:p.Arg223Gln | |
| ENST00000392070.7:c.668G>A MANE Select | ENSP00000375922.3:p.Arg223Gln | |
| ENST00000646154.1:n.482G>A | ||
| ENST00000336840.10:c.668G>A | ENSP00000338767.5:p.Arg223Gln | |
| ENST00000344493.8:c.668G>A | ENSP00000342092.4:p.Arg223Gln | |
| ENST00000350526.8:c.668G>A | ENSP00000343052.4:p.Arg223Gln | |
| ENST00000392069.6:c.668G>A | ENSP00000375921.2:p.Arg223Gln | |
| ENST00000392070.6:c.668G>A | ENSP00000375922.2:p.Arg223Gln | |
| ENST00000409551.7:c.665G>A | ENSP00000386750.3:p.Arg222Gln | |
| NM_001127366.2:c.665G>A | NP_001120838.1:p.Arg222Gln | |
| NM_181457.3:c.668G>A | NP_852122.1:p.Arg223Gln | |
| NM_181458.3:c.668G>A | NP_852123.1:p.Arg223Gln | |
| NM_181459.3:c.668G>A | NP_852124.1:p.Arg223Gln | |
| NM_181460.3:c.668G>A | NP_852125.1:p.Arg223Gln | |
| NM_181461.3:c.668G>A | NP_852126.1:p.Arg223Gln | |
| XM_011511278.1:c.812G>A | XP_011509580.1:p.Arg271Gln | |
| XM_011511279.1:c.104G>A | XP_011509581.1:p.Arg35Gln | |
| XR_923945.1:n.287+10232C>T | ||
| NM_001127366.3:c.665G>A | NP_001120838.1:p.Arg222Gln | |
| NM_181457.4:c.668G>A | NP_852122.1:p.Arg223Gln | |
| NM_181458.4:c.668G>A MANE Select | NP_852123.1:p.Arg223Gln | |
| NM_181459.4:c.668G>A | NP_852124.1:p.Arg223Gln | |
| NM_181460.4:c.668G>A | NP_852125.1:p.Arg223Gln | |
| NM_181461.4:c.668G>A | NP_852126.1:p.Arg223Gln |