Linked Data
dbSNP Id:
rs779951869
ExAC:
13:95839096 C / G
gnomAD v2:
13-95839096-C-G
gnomAD v4:
13-95186842-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.95186842C>G , CM000675.2:g.95186842C>G | GRCh38 |
| NC_000013.10:g.95839096C>G , CM000675.1:g.95839096C>G | GRCh37 |
| NC_000013.9:g.94637097C>G | NCBI36 |
| NG_050651.1:g.119605G>C | |
| NG_050651.2:g.119605G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642524.1:c.*1437G>C | ENSP00000493766.1:n.*1437G>C | |
| ENST00000643051.1:c.1404G>C | ENSP00000495513.1:p.Leu468= | |
| ENST00000643556.1:c.1545G>C | ENSP00000494938.1:n.1545G>C | |
| ENST00000643816.1:n.1687G>C | ||
| ENST00000643842.1:c.*1450G>C | ENSP00000493861.1:n.*1450G>C | |
| ENST00000644471.1:n.1500G>C | ||
| ENST00000645237.2:c.1404G>C MANE Select | ENSP00000494609.1:p.Leu468= | |
| ENST00000645532.1:c.1443G>C | ENSP00000494431.1:p.Leu481= | |
| ENST00000646439.1:c.1404G>C | ENSP00000494751.1:p.Leu468= | |
| ENST00000376887.8:c.1404G>C | ENSP00000366084.4:p.Leu468= | |
| ENST00000536256.3:c.1179G>C | ENSP00000442024.1:p.Leu393= | |
| ENST00000629385.1:c.1404G>C | ENSP00000487081.1:p.Leu468= | |
| NM_001105515.2:c.1404G>C | NP_001098985.1:p.Leu468= | |
| NM_001301829.1:c.1404G>C | NP_001288758.1:p.Leu468= | |
| NM_001301830.1:c.1179G>C | NP_001288759.1:p.Leu393= | |
| NM_005845.4:c.1404G>C | NP_005836.2:p.Leu468= | |
| XM_005254025.2:c.1275G>C | XP_005254082.1:p.Leu425= | |
| XM_006719914.1:c.1314G>C | XP_006719977.1:p.Leu438= | |
| XM_011521047.1:c.855G>C | XP_011519349.1:p.Leu285= | |
| XM_017020319.1:c.1275G>C | XP_016875808.1:p.Leu425= | |
| XM_017020320.2:c.1404G>C | XP_016875809.1:p.Leu468= | |
| XM_017020322.1:c.1275G>C | XP_016875811.1:p.Leu425= | |
| NM_001105515.3:c.1404G>C | NP_001098985.1:p.Leu468= | |
| NM_001301829.2:c.1404G>C | NP_001288758.1:p.Leu468= | |
| NM_001301830.2:c.1179G>C | NP_001288759.1:p.Leu393= | |
| NM_005845.5:c.1404G>C MANE Select | NP_005836.2:p.Leu468= |