Linked Data
ClinVar Variation Id:
21339
ClinVar RCV Id:
RCV000020504
dbSNP Id:
rs113993975
gnomAD v2:
14-51387748-C-T
gnomAD v4:
14-50921030-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50921030C>T , CM000676.2:g.50921030C>T | GRCh38 |
| NC_000014.8:g.51387748C>T , CM000676.1:g.51387748C>T | GRCh37 |
| NC_000014.7:g.50457498C>T | NCBI36 |
| NG_012796.1:g.28501G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216392.8:c.698G>A MANE Select | ENSP00000216392.7:p.Gly233Asp | |
| ENST00000216392.7:c.698G>A | ENSP00000216392.7:p.Gly233Asp | |
| ENST00000532462.5:c.698G>A | ENSP00000431657.1:p.Gly233Asp | |
| ENST00000544180.6:c.596G>A | ENSP00000443787.1:p.Gly199Asp | |
| ENST00000553872.1:n.499G>A | ||
| NM_001163940.1:c.596G>A | NP_001157412.1:p.Gly199Asp | |
| NM_002863.4:c.698G>A | NP_002854.3:p.Gly233Asp | |
| NM_002863.5:c.698G>A MANE Select | NP_002854.3:p.Gly233Asp | |
| NM_001163940.2:c.596G>A | NP_001157412.1:p.Gly199Asp |