Linked Data
ClinVar Variation Id:
6830
ClinVar RCV Id:
RCV000007232
dbSNP Id:
rs104894674
gnomAD v2:
19-39997739-G-A
gnomAD v4:
19-39507099-G-A
PubMed:
PMID:10742114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39507099G>A , CM000681.2:g.39507099G>A | GRCh38 |
| NC_000019.9:g.39997739G>A , CM000681.1:g.39997739G>A | GRCh37 |
| NC_000019.8:g.44689579G>A | NCBI36 |
| NG_008256.1:g.13183G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356433.10:c.1154G>A MANE Select | ENSP00000348810.4:p.Gly385Asp | |
| ENST00000205143.4:c.1154G>A | ENSP00000205143.3:p.Gly385Asp | |
| ENST00000356433.9:c.1154G>A | ENSP00000348810.4:p.Gly385Asp | |
| ENST00000596614.5:c.470G>A | ENSP00000471688.1:p.Gly157Asp | |
| NM_016941.3:c.1154G>A | NP_058637.1:p.Gly385Asp | |
| NM_203486.2:c.1154G>A | NP_982353.1:p.Gly385Asp | |
| NM_016941.4:c.1154G>A | NP_058637.1:p.Gly385Asp | |
| NM_203486.3:c.1154G>A MANE Select | NP_982353.1:p.Gly385Asp |