Linked Data
dbSNP Id:
rs1179800586
gnomAD v2:
13-95863017-T-A
gnomAD v3:
13-95210763-T-A
gnomAD v4:
13-95210763-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.95210763T>A , CM000675.2:g.95210763T>A | GRCh38 |
| NC_000013.10:g.95863017T>A , CM000675.1:g.95863017T>A | GRCh37 |
| NC_000013.9:g.94661018T>A | NCBI36 |
| NG_050651.1:g.95684A>T | |
| NG_050651.2:g.95684A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642524.1:c.*583A>T | ENSP00000493766.1:n.*583A>T | |
| ENST00000643051.1:c.550A>T | ENSP00000495513.1:p.Met184Leu | |
| ENST00000643556.1:c.691A>T | ENSP00000494938.1:n.691A>T | |
| ENST00000643816.1:n.833A>T | ||
| ENST00000643842.1:c.*596A>T | ENSP00000493861.1:n.*596A>T | |
| ENST00000644471.1:n.646A>T | ||
| ENST00000645237.2:c.550A>T MANE Select | ENSP00000494609.1:p.Met184Leu | |
| ENST00000645532.1:c.589A>T | ENSP00000494431.1:p.Met197Leu | |
| ENST00000646439.1:c.550A>T | ENSP00000494751.1:p.Met184Leu | |
| ENST00000376887.8:c.550A>T | ENSP00000366084.4:p.Met184Leu | |
| ENST00000536256.3:c.325A>T | ENSP00000442024.1:p.Met109Leu | |
| ENST00000629385.1:c.550A>T | ENSP00000487081.1:p.Met184Leu | |
| NM_001105515.2:c.550A>T | NP_001098985.1:p.Met184Leu | |
| NM_001301829.1:c.550A>T | NP_001288758.1:p.Met184Leu | |
| NM_001301830.1:c.325A>T | NP_001288759.1:p.Met109Leu | |
| NM_005845.4:c.550A>T | NP_005836.2:p.Met184Leu | |
| XM_005254025.2:c.421A>T | XP_005254082.1:p.Met141Leu | |
| XM_006719914.1:c.550A>T | XP_006719977.1:p.Met184Leu | |
| XM_011521047.1:c.1A>T | XP_011519349.1:p.Met1Leu | |
| XM_017020319.1:c.421A>T | XP_016875808.1:p.Met141Leu | |
| XM_017020320.2:c.550A>T | XP_016875809.1:p.Met184Leu | |
| XM_017020322.1:c.421A>T | XP_016875811.1:p.Met141Leu | |
| NM_001105515.3:c.550A>T | NP_001098985.1:p.Met184Leu | |
| NM_001301829.2:c.550A>T | NP_001288758.1:p.Met184Leu | |
| NM_001301830.2:c.325A>T | NP_001288759.1:p.Met109Leu | |
| NM_005845.5:c.550A>T MANE Select | NP_005836.2:p.Met184Leu |