Linked Data
dbSNP Id:
rs775471082
ExAC:
2:21233094 A / G
gnomAD v2:
2-21233094-A-G
gnomAD v4:
2-21010222-A-G
COSMIC:
COSM3962331
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21010222A>G , CM000664.2:g.21010222A>G | GRCh38 |
| NC_000002.11:g.21233094A>G , CM000664.1:g.21233094A>G | GRCh37 |
| NC_000002.10:g.21086599A>G | NCBI36 |
| NG_011793.1:g.38852T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.6646T>C MANE Select | ENSP00000233242.1:p.Tyr2216His | |
| ENST00000616098.4:c.6646T>C | ENSP00000477990.1:p.Tyr2216His | |
| NM_000384.2:c.6646T>C | NP_000375.2:p.Tyr2216His | |
| XM_011532809.1:c.5869+511T>C | XP_011531111.1:n.5869+511T>C | |
| NM_000384.3:c.6646T>C MANE Select | NP_000375.3:p.Tyr2216His |