Linked Data
ClinVar Variation Id:
2450
dbSNP Id:
rs104893983
ExAC:
6:31828287 C / T
gnomAD v2:
6-31828287-C-T
gnomAD v4:
6-31860510-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31860510C>T , CM000668.2:g.31860510C>T | GRCh38 |
| NC_000006.11:g.31828287C>T , CM000668.1:g.31828287C>T | GRCh37 |
| NC_000006.10:g.31936266C>T | NCBI36 |
| NG_008201.1:g.7423G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375631.5:c.727G>A MANE Select | ENSP00000364782.4:p.Gly243Arg | |
| ENST00000677054.1:n.1970G>A | ||
| ENST00000677512.1:n.835G>A | ||
| ENST00000678869.1:n.1401G>A | ||
| ENST00000375631.4:c.727G>A | ENSP00000364782.4:p.Gly243Arg | |
| ENST00000480384.1:n.756G>A | ||
| ENST00000491768.5:c.727G>A | ENSP00000433127.1:p.Gly243Arg | |
| ENST00000495807.1:n.1861G>A | ||
| NM_000434.3:c.727G>A | NP_000425.1:p.Gly243Arg | |
| NM_000434.4:c.727G>A MANE Select | NP_000425.1:p.Gly243Arg |