Linked Data
ClinVar Variation Id:
48406
dbSNP Id:
rs397517982
gnomAD v2:
1-215848514-C-T
gnomAD v4:
1-215675172-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675172C>T , CM000663.2:g.215675172C>T | GRCh38 |
| NC_000001.10:g.215848514C>T , CM000663.1:g.215848514C>T | GRCh37 |
| NC_000001.9:g.213915137C>T | NCBI36 |
| NG_009497.1:g.753225G>A | |
| NG_009497.2:g.753277G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12739G>A MANE Select | ENSP00000305941.3:p.Gly4247Arg | |
| ENST00000674083.1:c.12739G>A | ENSP00000501296.1:p.Gly4247Arg | |
| ENST00000307340.7:c.12739G>A | ENSP00000305941.3:p.Gly4247Arg | |
| NM_206933.2:c.12739G>A | NP_996816.2:p.Gly4247Arg | |
| NM_206933.3:c.12739G>A | NP_996816.2:p.Gly4247Arg | |
| NM_206933.4:c.12739G>A MANE Select | NP_996816.3:p.Gly4247Arg |