Linked Data
ClinVar Variation Id:
1984875
ClinVar RCV Id:
RCV002756924
dbSNP Id:
rs140497392
ExAC:
2:136590736 C / T
gnomAD v2:
2-136590736-C-T
gnomAD v3:
2-135833166-C-T
gnomAD v4:
2-135833166-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135833166C>T , CM000664.2:g.135833166C>T | GRCh38 |
| NC_000002.11:g.136590736C>T , CM000664.1:g.136590736C>T | GRCh37 |
| NC_000002.10:g.136307206C>T | NCBI36 |
| NG_008104.2:g.27004G>A , LRG_338:g.27004G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.665G>A MANE Select | ENSP00000264162.2:p.Arg222Gln | |
| ENST00000264162.6:c.665G>A | ENSP00000264162.2:p.Arg222Gln | |
| NM_002299.2:c.665G>A , LRG_338t1:c.665G>A | NP_002290.2:p.Arg222Gln | |
| NM_002299.3:c.665G>A | NP_002290.2:p.Arg222Gln | |
| XM_017004088.2:c.665G>A | XP_016859577.1:p.Arg222Gln | |
| NM_002299.4:c.665G>A MANE Select | NP_002290.2:p.Arg222Gln |