Linked Data
dbSNP Id:
rs1032787428
gnomAD v2:
1-200007651-G-T
gnomAD v3:
1-200038523-G-T
gnomAD v4:
1-200038523-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.200038523G>T , CM000663.2:g.200038523G>T | GRCh38 |
| NC_000001.10:g.200007651G>T , CM000663.1:g.200007651G>T | GRCh37 |
| NC_000001.9:g.198274274G>T | NCBI36 |
| NG_050913.1:g.15922G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367362.8:c.65-1135G>T MANE Select | ENSP00000356331.3:n.65-1135G>T | |
| ENST00000236914.7:c.65-5251G>T | ENSP00000236914.3:n.65-5251G>T | |
| ENST00000367362.7:c.65-1135G>T | ENSP00000356331.3:n.65-1135G>T | |
| ENST00000447034.1:c.30-178G>T | ||
| ENST00000474307.1:c.*419-5251G>T | ENSP00000436776.1:n.*419-5251G>T | |
| NM_003822.4:c.65-5251G>T | NP_003813.1:n.65-5251G>T | |
| NM_205860.2:c.65-1135G>T | NP_995582.1:n.65-1135G>T | |
| XM_011509380.1:c.-56-1135G>T | XP_011507682.1:n.-56-1135G>T | |
| XM_011509382.1:c.-14-5251G>T | XP_011507684.1:n.-14-5251G>T | |
| XM_011509381.3:c.-306G>T | XP_011507683.1:n.-306G>T | |
| NM_205860.3:c.65-1135G>T MANE Select | NP_995582.1:n.65-1135G>T | |
| NM_003822.5:c.65-5251G>T | NP_003813.1:n.65-5251G>T |