Linked Data
dbSNP Id:
rs12508991
gnomAD v2:
4-10041104-C-T
gnomAD v3:
4-10039480-C-T
gnomAD v4:
4-10039480-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.10039480C>T , CM000666.2:g.10039480C>T | GRCh38 |
| NC_000004.11:g.10041104C>T , CM000666.1:g.10041104C>T | GRCh37 |
| NC_000004.10:g.9650202C>T | NCBI36 |
| NG_011540.1:g.5769G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309065.7:c.-41+650G>A | ENSP00000311383.3:n.-41+650G>A | |
| ENST00000481042.1:n.259+650G>A | ||
| ENST00000505104.5:n.81+650G>A | ||
| ENST00000506583.5:c.-41+650G>A | ENSP00000422209.1:n.-41+650G>A | |
| ENST00000513129.1:c.-40-13474G>A | ENSP00000426800.1:n.-40-13474G>A | |
| NM_001001290.1:c.-41+650G>A | NP_001001290.1:n.-41+650G>A | |
| XM_006713969.2:c.-41+650G>A | XP_006714032.1:n.-41+650G>A | |
| XM_011513857.1:c.-41+650G>A | XP_011512159.1:n.-41+650G>A | |
| NM_001001290.2:c.-41+650G>A | NP_001001290.1:n.-41+650G>A |