Linked Data
gnomAD v4:
14-91272865-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272865C>A , CM000676.2:g.91272865C>A | GRCh38 |
| NC_000014.8:g.91739209C>A , CM000676.1:g.91739209C>A | GRCh37 |
| NC_000014.7:g.90808962C>A | NCBI36 |
| NG_033118.1:g.149980G>T | |
| NG_033118.2:g.149980G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5847G>T MANE Select | ENSP00000374507.6:p.Glu1949Asp | |
| ENST00000331194.8:c.1281G>T | ENSP00000330332.8:p.Glu427Asp | |
| ENST00000389857.10:c.5847G>T | ENSP00000374507.6:p.Glu1949Asp | |
| ENST00000556726.5:c.2075G>T | ||
| NM_001080414.3:c.5847G>T | NP_001073883.2:p.Glu1949Asp | |
| XM_011536796.1:c.5739G>T | XP_011535098.1:p.Glu1913Asp | |
| XM_011536796.2:c.5739G>T | XP_011535098.1:p.Glu1913Asp | |
| XM_017021336.1:c.2928G>T | XP_016876825.1:p.Glu976Asp | |
| NM_001080414.4:c.5847G>T MANE Select | NP_001073883.2:p.Glu1949Asp |