Linked Data
dbSNP Id:
rs11575248
gnomAD v2:
12-56735990-G-T
gnomAD v3:
12-56342206-G-T
gnomAD v4:
12-56342206-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56342206G>T , CM000674.2:g.56342206G>T | GRCh38 |
| NC_000012.11:g.56735990G>T , CM000674.1:g.56735990G>T | GRCh37 |
| NC_000012.10:g.55022257G>T | NCBI36 |
| NG_046314.1:g.23048C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555488.2:n.3622C>A | ||
| ENST00000698178.1:n.4330C>A | ||
| ENST00000698179.1:n.4282C>A | ||
| ENST00000698180.1:c.*3494C>A | ENSP00000513597.1:n.*3494C>A | |
| ENST00000698181.1:n.4776C>A | ||
| ENST00000698182.1:n.4549C>A | ||
| ENST00000698183.1:n.5009C>A | ||
| ENST00000698184.1:n.4783C>A | ||
| ENST00000698185.1:n.4942C>A | ||
| ENST00000698186.1:c.*1183C>A | ENSP00000513598.1:n.*1183C>A | |
| ENST00000698187.1:n.4054C>A | ||
| ENST00000698188.1:n.4406C>A | ||
| ENST00000698189.1:n.5816C>A | ||
| ENST00000698190.1:n.3963C>A | ||
| ENST00000698191.1:n.3896C>A | ||
| ENST00000698192.1:c.*749C>A | ENSP00000513599.1:n.*749C>A | |
| ENST00000314128.9:c.*1183C>A MANE Select | ENSP00000315768.4:n.*1183C>A | |
| ENST00000650805.1:c.*3173C>A | ENSP00000498710.1:n.*3173C>A | |
| ENST00000651078.1:n.4392C>A | ||
| ENST00000651301.1:c.*3413C>A | ENSP00000498470.1:n.*3413C>A | |
| ENST00000651805.1:n.4128C>A | ||
| ENST00000651915.1:c.*1183C>A | ENSP00000498876.1:n.*1183C>A | |
| ENST00000651934.1:n.4179C>A | ||
| ENST00000652091.1:n.4257C>A | ||
| ENST00000652624.1:c.*2865C>A | ENSP00000499108.1:n.*2865C>A | |
| ENST00000652741.1:c.*3494C>A | ENSP00000498704.1:n.*3494C>A | |
| ENST00000556539.5:n.2669C>A | ||
| NM_005419.3:c.*1183C>A | NP_005410.1:n.*1183C>A | |
| NM_198332.1:c.*1183C>A | NP_938146.1:n.*1183C>A | |
| XM_011538697.2:c.*1183C>A | XP_011536999.1:n.*1183C>A | |
| XM_011538698.3:c.*1183C>A | XP_011537000.1:n.*1183C>A | |
| XM_011538700.2:c.*1183C>A | XP_011537002.1:n.*1183C>A | |
| XM_017019904.2:c.*1183C>A | XP_016875393.1:n.*1183C>A | |
| XR_001748856.1:n.3662C>A | ||
| XR_001748857.1:n.3743C>A | ||
| XR_001748858.2:n.3620C>A | ||
| XR_002957375.1:n.4034C>A | ||
| XR_002957376.1:n.3992C>A | ||
| NM_005419.4:c.*1183C>A MANE Select | NP_005410.1:n.*1183C>A | |
| NM_198332.2:c.*1183C>A | NP_938146.1:n.*1183C>A | |
| NM_001385110.1:c.*1183C>A | NP_001372039.1:n.*1183C>A | |
| NM_001385111.1:c.*1183C>A | NP_001372040.1:n.*1183C>A | |
| NM_001385113.1:c.*1308C>A | NP_001372042.1:n.*1308C>A | |
| NM_001385114.1:c.*1183C>A | NP_001372043.1:n.*1183C>A | |
| NM_001385115.1:c.*1183C>A | NP_001372044.1:n.*1183C>A |