Linked Data
ClinVar Variation Id:
343663
ClinVar RCV Id:
RCV000323444
dbSNP Id:
rs148296224
gnomAD v2:
3-148415670-G-T
gnomAD v3:
3-148697883-G-T
gnomAD v4:
3-148697883-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.148697883G>T , CM000665.2:g.148697883G>T | GRCh38 |
| NC_000003.11:g.148415670G>T , CM000665.1:g.148415670G>T | GRCh37 |
| NC_000003.10:g.149898360G>T | NCBI36 |
| NG_008468.1:g.5013G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418473.7:c.-350G>T | ENSP00000398832.4:n.-350G>T | |
| ENST00000349243.7:c.-376G>T | ENSP00000273430.3:n.-376G>T | |
| ENST00000497524.5:c.-292G>T | ENSP00000419422.1:n.-292G>T | |
| NM_000685.4:c.-376G>T | NP_000676.1:n.-376G>T | |
| NM_004835.4:c.-245G>T | NP_004826.5:n.-245G>T | |
| NM_009585.3:c.-292G>T | NP_033611.1:n.-292G>T | |
| NM_031850.3:c.-329G>T | NP_114038.4:n.-329G>T |