Linked Data
ClinVar Variation Id:
2453
ClinVar RCV Id:
RCV000002557
dbSNP Id:
rs104893978
gnomAD v2:
6-31828296-A-G
gnomAD v3:
6-31860519-A-G
gnomAD v4:
6-31860519-A-G
PubMed:
PMID:11829139
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31860519A>G , CM000668.2:g.31860519A>G | GRCh38 |
| NC_000006.11:g.31828296A>G , CM000668.1:g.31828296A>G | GRCh37 |
| NC_000006.10:g.31936275A>G | NCBI36 |
| NG_008201.1:g.7414T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375631.5:c.718T>C MANE Select | ENSP00000364782.4:p.Trp240Arg | |
| ENST00000677054.1:n.1961T>C | ||
| ENST00000677512.1:n.826T>C | ||
| ENST00000678869.1:n.1392T>C | ||
| ENST00000375631.4:c.718T>C | ENSP00000364782.4:p.Trp240Arg | |
| ENST00000480384.1:n.747T>C | ||
| ENST00000491768.5:c.718T>C | ENSP00000433127.1:p.Trp240Arg | |
| ENST00000495807.1:n.1852T>C | ||
| NM_000434.3:c.718T>C | NP_000425.1:p.Trp240Arg | |
| NM_000434.4:c.718T>C MANE Select | NP_000425.1:p.Trp240Arg |