Linked Data
dbSNP Id:
rs104893980
ExAC:
6:31828340 C / T
gnomAD v2:
6-31828340-C-T
gnomAD v4:
6-31860563-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31860563C>T , CM000668.2:g.31860563C>T | GRCh38 |
| NC_000006.11:g.31828340C>T , CM000668.1:g.31828340C>T | GRCh37 |
| NC_000006.10:g.31936319C>T | NCBI36 |
| NG_008201.1:g.7370G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375631.5:c.674G>A MANE Select | ENSP00000364782.4:p.Arg225Gln | |
| ENST00000677054.1:n.1917G>A | ||
| ENST00000677512.1:n.782G>A | ||
| ENST00000678869.1:n.1348G>A | ||
| ENST00000375631.4:c.674G>A | ENSP00000364782.4:p.Arg225Gln | |
| ENST00000480384.1:n.703G>A | ||
| ENST00000491768.5:c.674G>A | ENSP00000433127.1:p.Arg225Gln | |
| ENST00000495807.1:n.1808G>A | ||
| NM_000434.3:c.674G>A | NP_000425.1:p.Arg225Gln | |
| NM_000434.4:c.674G>A MANE Select | NP_000425.1:p.Arg225Gln |