Linked Data
ClinVar Variation Id:
2636714
ClinVar RCV Id:
RCV003422500
dbSNP Id:
rs776672400
gnomAD v2:
2-223086036-T-C
gnomAD v4:
2-222221317-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.222221317T>C , CM000664.2:g.222221317T>C | GRCh38 |
| NC_000002.11:g.223086036T>C , CM000664.1:g.223086036T>C | GRCh37 |
| NC_000002.10:g.222794280T>C | NCBI36 |
| NG_011632.1:g.82665A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336840.11:c.863A>G | ENSP00000338767.5:p.His288Arg | |
| ENST00000344493.9:c.863A>G | ENSP00000342092.4:p.His288Arg | |
| ENST00000350526.9:c.863A>G | ENSP00000343052.4:p.His288Arg | |
| ENST00000392070.7:c.863A>G MANE Select | ENSP00000375922.3:p.His288Arg | |
| ENST00000464706.6:n.301A>G | ||
| ENST00000644699.1:n.189A>G | ||
| ENST00000644937.1:n.135A>G | ||
| ENST00000646154.1:n.677A>G | ||
| ENST00000336840.10:c.863A>G | ENSP00000338767.5:p.His288Arg | |
| ENST00000344493.8:c.863A>G | ENSP00000342092.4:p.His288Arg | |
| ENST00000350526.8:c.863A>G | ENSP00000343052.4:p.His288Arg | |
| ENST00000392069.6:c.863A>G | ENSP00000375921.2:p.His288Arg | |
| ENST00000392070.6:c.863A>G | ENSP00000375922.2:p.His288Arg | |
| ENST00000409551.7:c.860A>G | ENSP00000386750.3:p.His287Arg | |
| ENST00000464706.5:n.287A>G | ||
| ENST00000555548.1:n.94A>G | ||
| NM_001127366.2:c.860A>G | NP_001120838.1:p.His287Arg | |
| NM_181457.3:c.863A>G | NP_852122.1:p.His288Arg | |
| NM_181458.3:c.863A>G | NP_852123.1:p.His288Arg | |
| NM_181459.3:c.863A>G | NP_852124.1:p.His288Arg | |
| NM_181460.3:c.863A>G | NP_852125.1:p.His288Arg | |
| NM_181461.3:c.863A>G | NP_852126.1:p.His288Arg | |
| XM_011511278.1:c.1007A>G | XP_011509580.1:p.His336Arg | |
| XM_011511279.1:c.299A>G | XP_011509581.1:p.His100Arg | |
| NM_001127366.3:c.860A>G | NP_001120838.1:p.His287Arg | |
| NM_181457.4:c.863A>G | NP_852122.1:p.His288Arg | |
| NM_181458.4:c.863A>G MANE Select | NP_852123.1:p.His288Arg | |
| NM_181459.4:c.863A>G | NP_852124.1:p.His288Arg | |
| NM_181460.4:c.863A>G | NP_852125.1:p.His288Arg | |
| NM_181461.4:c.863A>G | NP_852126.1:p.His288Arg |