Linked Data
dbSNP Id:
rs755562339
ExAC:
14:103389039 G / A
gnomAD v2:
14-103389039-G-A
gnomAD v4:
14-102922702-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102922702G>A , CM000676.2:g.102922702G>A | GRCh38 |
| NC_000014.8:g.103389039G>A , CM000676.1:g.103389039G>A | GRCh37 |
| NC_000014.7:g.102458792G>A | NCBI36 |
| NG_008276.2:g.5047G>A , LRG_642:g.5047G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299155.10:c.14G>A MANE Select | ENSP00000299155.6:p.Gly5Asp | |
| ENST00000299155.9:c.14G>A | ENSP00000299155.5:p.Gly5Asp | |
| NM_030943.3:c.14G>A , LRG_642t1:c.14G>A | NP_112205.2:p.Gly5Asp | |
| XM_011537202.1:c.-168G>A | XP_011535504.1:n.-168G>A | |
| XM_011537202.3:c.-168G>A | XP_011535504.1:n.-168G>A | |
| XM_024449714.1:c.110G>A | XP_024305482.1:p.Gly37Asp | |
| NM_030943.4:c.14G>A MANE Select | NP_112205.2:p.Gly5Asp |