Linked Data
ClinVar Variation Id:
901382
ClinVar RCV Id:
RCV001147226
dbSNP Id:
rs748661863
ExAC:
3:172166120 G / A
gnomAD v2:
3-172166120-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.172448330G>A , CM000665.2:g.172448330G>A | GRCh38 |
| NC_000003.11:g.172166120G>A , CM000665.1:g.172166120G>A | GRCh37 |
| NC_000003.10:g.173648814G>A | NCBI36 |
| NG_021159.1:g.5127C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241256.3:c.84C>T MANE Select | ENSP00000241256.2:p.Asp28= | |
| ENST00000241256.2:c.84C>T | ENSP00000241256.2:p.Asp28= | |
| ENST00000427970.1:c.84C>T | ENSP00000395344.1:p.Asp28= | |
| NM_004122.2:c.84C>T | NP_004113.1:p.Asp28= | |
| NM_198407.2:c.84C>T MANE Select | NP_940799.1:p.Asp28= |