Linked Data
dbSNP Id:
rs1018531739
gnomAD v2:
1-149899841-C-A
gnomAD v3:
1-149927949-C-A
gnomAD v4:
1-149927949-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149927949C>A , CM000663.2:g.149927949C>A | GRCh38 |
| NC_000001.10:g.149899841C>A , CM000663.1:g.149899841C>A | GRCh37 |
| NC_000001.9:g.148166465C>A | NCBI36 |
| NG_032777.1:g.5304G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.8:c.-190G>T | ENSP00000271628.8:n.-190G>T | |
| NM_005850.4:c.-190G>T | NP_005841.1:n.-190G>T |