Linked Data
gnomAD v4:
14-91272797-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272797C>A , CM000676.2:g.91272797C>A | GRCh38 |
| NC_000014.8:g.91739141C>A , CM000676.1:g.91739141C>A | GRCh37 |
| NC_000014.7:g.90808894C>A | NCBI36 |
| NG_033118.1:g.150048G>T | |
| NG_033118.2:g.150048G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5915G>T MANE Select | ENSP00000374507.6:p.Gly1972Val | |
| ENST00000331194.8:c.1349G>T | ENSP00000330332.8:p.Gly450Val | |
| ENST00000389857.10:c.5915G>T | ENSP00000374507.6:p.Gly1972Val | |
| ENST00000556726.5:c.2143G>T | ||
| NM_001080414.3:c.5915G>T | NP_001073883.2:p.Gly1972Val | |
| XM_011536796.1:c.5807G>T | XP_011535098.1:p.Gly1936Val | |
| XM_011536796.2:c.5807G>T | XP_011535098.1:p.Gly1936Val | |
| XM_017021336.1:c.2996G>T | XP_016876825.1:p.Gly999Val | |
| NM_001080414.4:c.5915G>T MANE Select | NP_001073883.2:p.Gly1972Val |