Linked Data
dbSNP Id:
rs17599165
gnomAD v2:
4-46940215-T-A
gnomAD v3:
4-46938198-T-A
gnomAD v4:
4-46938198-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46938198T>A , CM000666.2:g.46938198T>A | GRCh38 |
| NC_000004.11:g.46940215T>A , CM000666.1:g.46940215T>A | GRCh37 |
| NC_000004.10:g.46634972T>A | NCBI36 |
| NG_011809.1:g.60366A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264318.4:c.1135-9443A>T MANE Select | ENSP00000264318.3:n.1135-9443A>T | |
| ENST00000264318.3:c.1135-9443A>T | ENSP00000264318.3:n.1135-9443A>T | |
| ENST00000508560.5:c.*956-9443A>T | ENSP00000425445.1:n.*956-9443A>T | |
| ENST00000511523.5:c.*803-9443A>T | ENSP00000422152.1:n.*803-9443A>T | |
| NM_000809.3:c.1135-9443A>T | NP_000800.2:n.1135-9443A>T | |
| NM_001204266.1:c.1078-9443A>T | NP_001191195.1:n.1078-9443A>T | |
| NM_001204267.1:c.925-9443A>T | NP_001191196.1:n.925-9443A>T | |
| XM_011513677.1:c.982-9443A>T | XP_011511979.1:n.982-9443A>T | |
| NM_000809.4:c.1135-9443A>T MANE Select | NP_000800.2:n.1135-9443A>T | |
| NM_001204266.2:c.1078-9443A>T | NP_001191195.1:n.1078-9443A>T | |
| NM_001204267.2:c.925-9443A>T | NP_001191196.1:n.925-9443A>T |