Linked Data
dbSNP Id:
rs1569125949
gnomAD v2:
X-9733236-C-A
gnomAD v3:
X-9765196-C-A
gnomAD v4:
X-9765196-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.9765196C>A , CM000685.2:g.9765196C>A | GRCh38 |
| NC_000023.10:g.9733236C>A , CM000685.1:g.9733236C>A | GRCh37 |
| NC_000023.9:g.9693236C>A | NCBI36 |
| NG_009074.1:g.5682G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467482.6:c.250+372G>T MANE Select | ENSP00000417161.1:n.250+372G>T | |
| ENST00000431126.1:c.-3+924G>T | ENSP00000406138.1:n.-3+924G>T | |
| ENST00000447366.5:c.-2-4370G>T | ENSP00000390546.2:n.-2-4370G>T | |
| ENST00000467482.5:c.250+372G>T | ENSP00000417161.1:n.250+372G>T | |
| NM_000273.2:c.250+372G>T | NP_000264.2:n.250+372G>T | |
| XM_005274541.2:c.250+372G>T | XP_005274598.1:n.250+372G>T | |
| XM_005274541.3:c.250+372G>T | XP_005274598.1:n.250+372G>T | |
| XM_024452387.1:c.-2-4370G>T | XP_024308155.1:n.-2-4370G>T | |
| XM_024452388.1:c.-2-4370G>T | XP_024308156.1:n.-2-4370G>T | |
| NM_000273.3:c.250+372G>T MANE Select | NP_000264.2:n.250+372G>T |