Linked Data
dbSNP Id:
rs1724425
gnomAD v2:
17-43781747-C-T
gnomAD v3:
17-45704381-C-T
gnomAD v4:
17-45704381-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45704381C>T , CM000679.2:g.45704381C>T | GRCh38 |
| NC_000017.10:g.43781747C>T , CM000679.1:g.43781747C>T | GRCh37 |
| NC_000017.9:g.41137530C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000587305.1:n.447+31479C>T | ||
| ENST00000634540.1:c.-493+74223C>T | ENSP00000488912.1:n.-493+74223C>T | |
| NM_001256299.2:c.-493+74223C>T | NP_001243228.1:n.-493+74223C>T | |
| NM_001303016.1:c.-185+31479C>T | NP_001289945.1:n.-185+31479C>T | |
| NM_001256299.3:c.-493+74223C>T | NP_001243228.1:n.-493+74223C>T |