Linked Data
gnomAD v4:
6-31859703-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859703G>T , CM000668.2:g.31859703G>T | GRCh38 |
| NC_000006.11:g.31827480G>T , CM000668.1:g.31827480G>T | GRCh37 |
| NC_000006.10:g.31935459G>T | NCBI36 |
| NG_008201.1:g.8230C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.*16C>A MANE Select | ENSP00000364782.4:n.*16C>A | |
| ENST00000677054.1:n.2603C>A | ||
| ENST00000677512.1:n.1541C>A | ||
| ENST00000678869.1:n.1852C>A | ||
| ENST00000375631.4:c.*16C>A | ENSP00000364782.4:n.*16C>A | |
| ENST00000480384.1:n.1563C>A | ||
| ENST00000491768.5:c.*374C>A | ENSP00000433127.1:n.*374C>A | |
| ENST00000495807.1:n.2572C>A | ||
| NM_000434.3:c.*16C>A | NP_000425.1:n.*16C>A | |
| NM_000434.4:c.*16C>A MANE Select | NP_000425.1:n.*16C>A |