Linked Data
gnomAD v4:
16-81315022-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81315022G>T , CM000678.2:g.81315022G>T | GRCh38 |
| NC_000016.9:g.81348627G>T , CM000678.1:g.81348627G>T | GRCh37 |
| NC_000016.8:g.79906128G>T | NCBI36 |
| NG_009007.1:g.5057G>T , LRG_242:g.5057G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.-92G>T | ENSP00000498114.1:n.-92G>T | |
| ENST00000648994.2:c.-92G>T MANE Select | ENSP00000497351.1:n.-92G>T | |
| ENST00000674788.1:n.34G>T | ||
| ENST00000568107.2:c.-92G>T | ENSP00000476795.1:n.-92G>T | |
| NM_022041.3:c.-92G>T , LRG_242t1:c.-92G>T | NP_071324.1:n.-92G>T | |
| XM_017023734.1:c.-616G>T | XP_016879223.1:n.-616G>T | |
| NM_001377486.1:c.-616G>T | NP_001364415.1:n.-616G>T | |
| NM_022041.4:c.-92G>T MANE Select | NP_071324.1:n.-92G>T |