Linked Data
gnomAD v4:
6-31859693-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859693G>A , CM000668.2:g.31859693G>A | GRCh38 |
| NC_000006.11:g.31827470G>A , CM000668.1:g.31827470G>A | GRCh37 |
| NC_000006.10:g.31935449G>A | NCBI36 |
| NG_008201.1:g.8240C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.*26C>T MANE Select | ENSP00000364782.4:n.*26C>T | |
| ENST00000677054.1:n.2613C>T | ||
| ENST00000677512.1:n.1551C>T | ||
| ENST00000678869.1:n.1862C>T | ||
| ENST00000375631.4:c.*26C>T | ENSP00000364782.4:n.*26C>T | |
| ENST00000480384.1:n.1573C>T | ||
| ENST00000491768.5:c.*384C>T | ENSP00000433127.1:n.*384C>T | |
| ENST00000495807.1:n.2582C>T | ||
| NM_000434.3:c.*26C>T | NP_000425.1:n.*26C>T | |
| NM_000434.4:c.*26C>T MANE Select | NP_000425.1:n.*26C>T |