Linked Data
dbSNP Id:
rs142703143
gnomAD v2:
13-95838775-G-A
gnomAD v3:
13-95186521-G-A
gnomAD v4:
13-95186521-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.95186521G>A , CM000675.2:g.95186521G>A | GRCh38 |
| NC_000013.10:g.95838775G>A , CM000675.1:g.95838775G>A | GRCh37 |
| NC_000013.9:g.94636776G>A | NCBI36 |
| NG_050651.1:g.119926C>T | |
| NG_050651.2:g.119926C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642524.1:c.*1578+180C>T | ENSP00000493766.1:n.*1578+180C>T | |
| ENST00000643051.1:c.1545+180C>T | ENSP00000495513.1:n.1545+180C>T | |
| ENST00000643556.1:c.1686+180C>T | ENSP00000494938.1:n.1686+180C>T | |
| ENST00000643816.1:n.1828+180C>T | ||
| ENST00000643842.1:c.*1591+180C>T | ENSP00000493861.1:n.*1591+180C>T | |
| ENST00000644471.1:n.1641+180C>T | ||
| ENST00000645237.2:c.1545+180C>T MANE Select | ENSP00000494609.1:n.1545+180C>T | |
| ENST00000645532.1:c.1584+180C>T | ENSP00000494431.1:n.1584+180C>T | |
| ENST00000646439.1:c.1545+180C>T | ENSP00000494751.1:n.1545+180C>T | |
| ENST00000376887.8:c.1545+180C>T | ENSP00000366084.4:n.1545+180C>T | |
| ENST00000536256.3:c.1320+180C>T | ENSP00000442024.1:n.1320+180C>T | |
| ENST00000629385.1:c.1545+180C>T | ENSP00000487081.1:n.1545+180C>T | |
| NM_001105515.2:c.1545+180C>T | NP_001098985.1:n.1545+180C>T | |
| NM_001301829.1:c.1545+180C>T | NP_001288758.1:n.1545+180C>T | |
| NM_001301830.1:c.1320+180C>T | NP_001288759.1:n.1320+180C>T | |
| NM_005845.4:c.1545+180C>T | NP_005836.2:n.1545+180C>T | |
| XM_005254025.2:c.1416+180C>T | XP_005254082.1:n.1416+180C>T | |
| XM_006719914.1:c.1455+180C>T | XP_006719977.1:n.1455+180C>T | |
| XM_011521047.1:c.996+180C>T | XP_011519349.1:n.996+180C>T | |
| XM_017020319.1:c.1416+180C>T | XP_016875808.1:n.1416+180C>T | |
| XM_017020320.2:c.1545+180C>T | XP_016875809.1:n.1545+180C>T | |
| XM_017020321.1:c.-1012C>T | XP_016875810.1:n.-1012C>T | |
| XM_017020322.1:c.1416+180C>T | XP_016875811.1:n.1416+180C>T | |
| NM_001105515.3:c.1545+180C>T | NP_001098985.1:n.1545+180C>T | |
| NM_001301829.2:c.1545+180C>T | NP_001288758.1:n.1545+180C>T | |
| NM_001301830.2:c.1320+180C>T | NP_001288759.1:n.1320+180C>T | |
| NM_005845.5:c.1545+180C>T MANE Select | NP_005836.2:n.1545+180C>T |