Linked Data
ClinVar Variation Id:
365334
dbSNP Id:
rs1056912
gnomAD v2:
9-135139307-G-A
gnomAD v3:
9-132263920-G-A
gnomAD v4:
9-132263920-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132263920G>A , CM000671.2:g.132263920G>A | GRCh38 |
| NC_000009.11:g.135139307G>A , CM000671.1:g.135139307G>A | GRCh37 |
| NC_000009.10:g.134129128G>A | NCBI36 |
| NG_007946.1:g.96066C>T , LRG_268:g.96066C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224140.6:c.*319C>T MANE Select | ENSP00000224140.5:n.*319C>T | |
| ENST00000224140.5:c.*319C>T | ENSP00000224140.5:n.*319C>T | |
| ENST00000436441.5:c.3166C>T | ENSP00000409143.1:n.3166C>T | |
| ENST00000477049.1:n.1503C>T | ||
| NM_015046.5:c.*319C>T , LRG_268t1:c.*319C>T | NP_055861.3:n.*319C>T | |
| XM_005272171.1:c.*319C>T | XP_005272228.1:n.*319C>T | |
| XM_005272172.1:c.*319C>T | XP_005272229.1:n.*319C>T | |
| XM_005272173.1:c.*319C>T | XP_005272230.1:n.*319C>T | |
| XM_011518404.1:c.*319C>T | XP_011516706.1:n.*319C>T | |
| XM_011518405.1:c.*319C>T | XP_011516707.1:n.*319C>T | |
| XR_929739.1:n.8269C>T | ||
| NM_001351527.1:c.*319C>T | NP_001338456.1:n.*319C>T | |
| NM_001351528.1:c.*319C>T | NP_001338457.1:n.*319C>T | |
| NM_015046.6:c.*319C>T | NP_055861.3:n.*319C>T | |
| XM_017014496.1:c.*319C>T | XP_016869985.1:n.*319C>T | |
| XR_001746251.1:n.7908C>T | ||
| XR_929739.2:n.8269C>T | ||
| NM_015046.7:c.*319C>T MANE Select | NP_055861.3:n.*319C>T | |
| NM_001351528.2:c.*319C>T | NP_001338457.1:n.*319C>T | |
| NM_001351527.2:c.*319C>T | NP_001338456.1:n.*319C>T |