Linked Data
dbSNP Id:
rs1415561480
gnomAD v2:
X-9733581-C-T
gnomAD v3:
X-9765541-C-T
gnomAD v4:
X-9765541-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.9765541C>T , CM000685.2:g.9765541C>T | GRCh38 |
| NC_000023.10:g.9733581C>T , CM000685.1:g.9733581C>T | GRCh37 |
| NC_000023.9:g.9693581C>T | NCBI36 |
| NG_009074.1:g.5337G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467482.6:c.250+27G>A MANE Select | ENSP00000417161.1:n.250+27G>A | |
| ENST00000431126.1:c.-3+579G>A | ENSP00000406138.1:n.-3+579G>A | |
| ENST00000447366.5:c.-2-4715G>A | ENSP00000390546.2:n.-2-4715G>A | |
| ENST00000467482.5:c.250+27G>A | ENSP00000417161.1:n.250+27G>A | |
| NM_000273.2:c.250+27G>A | NP_000264.2:n.250+27G>A | |
| XM_005274541.2:c.250+27G>A | XP_005274598.1:n.250+27G>A | |
| XM_005274541.3:c.250+27G>A | XP_005274598.1:n.250+27G>A | |
| XM_024452387.1:c.-2-4715G>A | XP_024308155.1:n.-2-4715G>A | |
| XM_024452388.1:c.-2-4715G>A | XP_024308156.1:n.-2-4715G>A | |
| NM_000273.3:c.250+27G>A MANE Select | NP_000264.2:n.250+27G>A |