Linked Data
gnomAD v4:
14-91272906-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272906C>A , CM000676.2:g.91272906C>A | GRCh38 |
| NC_000014.8:g.91739250C>A , CM000676.1:g.91739250C>A | GRCh37 |
| NC_000014.7:g.90809003C>A | NCBI36 |
| NG_033118.1:g.149939G>T | |
| NG_033118.2:g.149939G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5806G>T MANE Select | ENSP00000374507.6:p.Ala1936Ser | |
| ENST00000331194.8:c.1240G>T | ENSP00000330332.8:p.Ala414Ser | |
| ENST00000389857.10:c.5806G>T | ENSP00000374507.6:p.Ala1936Ser | |
| ENST00000556726.5:c.2034G>T | ||
| NM_001080414.3:c.5806G>T | NP_001073883.2:p.Ala1936Ser | |
| XM_011536796.1:c.5698G>T | XP_011535098.1:p.Ala1900Ser | |
| XM_011536796.2:c.5698G>T | XP_011535098.1:p.Ala1900Ser | |
| XM_017021336.1:c.2887G>T | XP_016876825.1:p.Ala963Ser | |
| NM_001080414.4:c.5806G>T MANE Select | NP_001073883.2:p.Ala1936Ser |