Linked Data
ClinVar Variation Id:
542350
ClinVar RCV Id:
RCV000652755
dbSNP Id:
rs200444661
ExAC:
12:56740217 G / A
gnomAD v2:
12-56740217-G-A
gnomAD v3:
12-56346433-G-A
gnomAD v4:
12-56346433-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56346433G>A , CM000674.2:g.56346433G>A | GRCh38 |
| NC_000012.11:g.56740217G>A , CM000674.1:g.56740217G>A | GRCh37 |
| NC_000012.10:g.55026484G>A | NCBI36 |
| NG_046314.1:g.18821C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555488.2:n.1634+9C>T | ||
| ENST00000698178.1:n.2635+9C>T | ||
| ENST00000698179.1:n.2587+9C>T | ||
| ENST00000698180.1:c.*1799+9C>T | ENSP00000513597.1:n.*1799+9C>T | |
| ENST00000698181.1:n.3081+9C>T | ||
| ENST00000698182.1:n.2854+9C>T | ||
| ENST00000698183.1:n.3314+9C>T | ||
| ENST00000698184.1:n.3088+9C>T | ||
| ENST00000698185.1:n.3247+9C>T | ||
| ENST00000698186.1:c.1912+9C>T | ENSP00000513598.1:n.1912+9C>T | |
| ENST00000698187.1:n.2370+9C>T | ||
| ENST00000698188.1:n.2711+9C>T | ||
| ENST00000698189.1:n.3828+9C>T | ||
| ENST00000698190.1:n.2702+9C>T | ||
| ENST00000698191.1:n.2635+9C>T | ||
| ENST00000698192.1:c.2044+9C>T | ENSP00000513599.1:n.2044+9C>T | |
| ENST00000698193.1:c.2044+9C>T | ENSP00000513600.1:n.2044+9C>T | |
| ENST00000314128.9:c.2044+9C>T MANE Select | ENSP00000315768.4:n.2044+9C>T | |
| ENST00000556140.6:n.2816+9C>T | ||
| ENST00000650805.1:c.*1478+9C>T | ENSP00000498710.1:n.*1478+9C>T | |
| ENST00000651078.1:n.2697+9C>T | ||
| ENST00000651301.1:c.*1718+9C>T | ENSP00000498470.1:n.*1718+9C>T | |
| ENST00000651339.1:n.779+9C>T | ||
| ENST00000651805.1:n.2433+9C>T | ||
| ENST00000651915.1:c.1945+9C>T | ENSP00000498876.1:n.1945+9C>T | |
| ENST00000651934.1:n.2484+9C>T | ||
| ENST00000651967.1:n.2159+9C>T | ||
| ENST00000652091.1:n.2562+9C>T | ||
| ENST00000652398.1:c.*1610+9C>T | ENSP00000499022.1:n.*1610+9C>T | |
| ENST00000652624.1:c.*1170+9C>T | ENSP00000499108.1:n.*1170+9C>T | |
| ENST00000652741.1:c.*1799+9C>T | ENSP00000498704.1:n.*1799+9C>T | |
| ENST00000314128.8:c.2044+9C>T | ENSP00000315768.4:n.2044+9C>T | |
| ENST00000555488.1:n.427+9C>T | ||
| ENST00000556539.5:n.974+9C>T | ||
| ENST00000557235.5:c.2032+9C>T | ENSP00000450751.1:n.2032+9C>T | |
| NM_005419.3:c.2044+9C>T | NP_005410.1:n.2044+9C>T | |
| NM_198332.1:c.2032+9C>T | NP_938146.1:n.2032+9C>T | |
| XM_011538697.1:c.2068+9C>T | XP_011536999.1:n.2068+9C>T | |
| XM_011538698.1:c.2056+9C>T | XP_011537000.1:n.2056+9C>T | |
| XM_011538700.1:c.1336+9C>T | XP_011537002.1:n.1336+9C>T | |
| XM_011538701.1:c.1099+9C>T | XP_011537003.1:n.1099+9C>T | |
| XM_011538697.2:c.2068+9C>T | XP_011536999.1:n.2068+9C>T | |
| XM_011538698.3:c.2056+9C>T | XP_011537000.1:n.2056+9C>T | |
| XM_011538700.2:c.1336+9C>T | XP_011537002.1:n.1336+9C>T | |
| XM_017019904.2:c.1312+9C>T | XP_016875393.1:n.1312+9C>T | |
| XR_001748856.1:n.1967+9C>T | ||
| XR_001748857.1:n.2048+9C>T | ||
| XR_001748858.2:n.1925+9C>T | ||
| XR_002957375.1:n.2339+9C>T | ||
| XR_002957376.1:n.2297+9C>T | ||
| NM_005419.4:c.2044+9C>T MANE Select | NP_005410.1:n.2044+9C>T | |
| NM_198332.2:c.2032+9C>T | NP_938146.1:n.2032+9C>T | |
| NM_001385110.1:c.2011+9C>T | NP_001372039.1:n.2011+9C>T | |
| NM_001385111.1:c.1945+9C>T | NP_001372040.1:n.1945+9C>T | |
| NM_001385113.1:c.2044+9C>T | NP_001372042.1:n.2044+9C>T | |
| NM_001385114.1:c.2023+9C>T | NP_001372043.1:n.2023+9C>T | |
| NM_001385115.1:c.2002+9C>T | NP_001372044.1:n.2002+9C>T |