Linked Data
gnomAD v4:
14-102922679-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102922679C>A , CM000676.2:g.102922679C>A | GRCh38 |
| NC_000014.8:g.103389016C>A , CM000676.1:g.103389016C>A | GRCh37 |
| NC_000014.7:g.102458769C>A | NCBI36 |
| NG_008276.2:g.5024C>A , LRG_642:g.5024C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299155.10:c.-10C>A MANE Select | ENSP00000299155.6:n.-10C>A | |
| ENST00000299155.9:c.-10C>A | ENSP00000299155.5:n.-10C>A | |
| NM_030943.3:c.-10C>A , LRG_642t1:c.-10C>A | NP_112205.2:n.-10C>A | |
| XM_011537202.1:c.-191C>A | XP_011535504.1:n.-191C>A | |
| XM_011537202.3:c.-191C>A | XP_011535504.1:n.-191C>A | |
| XM_024449714.1:c.87C>A | XP_024305482.1:p.Ser29Arg | |
| NM_030943.4:c.-10C>A MANE Select | NP_112205.2:n.-10C>A |