Linked Data
dbSNP Id:
rs1290228859
gnomAD v2:
4-149363633-C-T
gnomAD v3:
4-148442481-C-T
gnomAD v4:
4-148442481-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.148442481C>T , CM000666.2:g.148442481C>T | GRCh38 |
| NC_000004.11:g.149363633C>T , CM000666.1:g.149363633C>T | GRCh37 |
| NC_000004.10:g.149583083C>T | NCBI36 |
| NG_013350.1:g.5040G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344721.8:c.-3+2045G>A | ENSP00000341390.4:n.-3+2045G>A | |
| ENST00000358102.7:c.-324G>A | ENSP00000350815.3:n.-324G>A | |
| ENST00000625323.2:c.-324G>A | ENSP00000486719.1:n.-324G>A | |
| NM_000901.4:c.-324G>A | NP_000892.2:n.-324G>A | |
| NM_001166104.1:c.-324G>A | NP_001159576.1:n.-324G>A | |
| XM_011531975.1:c.-324G>A | XP_011530277.1:n.-324G>A | |
| XM_011531976.1:c.-3+2045G>A | XP_011530278.1:n.-3+2045G>A | |
| XM_011531977.1:c.-3+2719G>A | XP_011530279.1:n.-3+2719G>A | |
| XM_011531978.1:c.-324G>A | XP_011530280.1:n.-324G>A | |
| NM_001354819.1:c.-3+2045G>A | NP_001341748.1:n.-3+2045G>A | |
| NR_148974.1:n.40G>A | ||
| XM_011531978.2:c.-324G>A | XP_011530280.1:n.-324G>A |