Linked Data
dbSNP Id:
rs11920090
gnomAD v2:
3-170717521-T-A
gnomAD v3:
3-170999732-T-A
gnomAD v4:
3-170999732-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.170999732T>A , CM000665.2:g.170999732T>A | GRCh38 |
| NC_000003.11:g.170717521T>A , CM000665.1:g.170717521T>A | GRCh37 |
| NC_000003.10:g.172200215T>A | NCBI36 |
| NG_008108.1:g.32248A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314251.8:c.1069-566A>T MANE Select | ENSP00000323568.3:n.1069-566A>T | |
| ENST00000314251.7:c.1069-566A>T | ENSP00000323568.3:n.1069-566A>T | |
| ENST00000469787.1:c.*536-566A>T | ENSP00000417918.1:n.*536-566A>T | |
| ENST00000497642.5:c.*536-566A>T | ENSP00000418456.1:n.*536-566A>T | |
| NM_000340.1:c.1069-566A>T | NP_000331.1:n.1069-566A>T | |
| NM_001278658.1:c.712-566A>T | NP_001265587.1:n.712-566A>T | |
| NM_001278659.1:c.550-566A>T | NP_001265588.1:n.550-566A>T | |
| XM_011513087.1:c.1024-566A>T | XP_011511389.1:n.1024-566A>T | |
| XM_011513088.1:c.850-566A>T | XP_011511390.1:n.850-566A>T | |
| XM_011513089.1:c.550-566A>T | XP_011511391.1:n.550-566A>T | |
| XM_011513087.2:c.1024-566A>T | XP_011511389.1:n.1024-566A>T | |
| XM_024453720.1:c.550-566A>T | XP_024309488.1:n.550-566A>T | |
| NM_000340.2:c.1069-566A>T MANE Select | NP_000331.1:n.1069-566A>T | |
| NM_001278658.2:c.712-566A>T | NP_001265587.1:n.712-566A>T | |
| NM_001278659.2:c.550-566A>T | NP_001265588.1:n.550-566A>T |