Linked Data
dbSNP Id:
rs781699153
ExAC:
9:130630776 G / A
gnomAD v2:
9-130630776-G-A
gnomAD v4:
9-127868497-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127868497G>A , CM000671.2:g.127868497G>A | GRCh38 |
| NC_000009.11:g.130630776G>A , CM000671.1:g.130630776G>A | GRCh37 |
| NC_000009.10:g.129670597G>A | NCBI36 |
| NG_011792.1:g.14247C>T | |
| NG_011792.2:g.14247C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476274.7:n.840C>T | ||
| ENST00000643029.1:c.*2015C>T | ENSP00000496586.1:n.*2015C>T | |
| ENST00000643338.1:c.*1904C>T | ENSP00000495890.1:n.*1904C>T | |
| ENST00000644144.2:c.340C>T MANE Select | ENSP00000494600.1:p.Leu114= | |
| ENST00000645007.1:c.*2264C>T | ENSP00000494773.1:n.*2264C>T | |
| ENST00000646171.1:c.*373C>T | ENSP00000495484.1:n.*373C>T | |
| ENST00000223836.10:c.388C>T | ENSP00000223836.10:p.Leu130= | |
| ENST00000373156.5:c.340C>T | ENSP00000362249.1:p.Leu114= | |
| ENST00000373176.5:c.340C>T | ENSP00000362271.1:p.Leu114= | |
| ENST00000413016.5:c.162C>T | ||
| ENST00000550143.5:c.142-22C>T | ENSP00000449130.1:n.142-22C>T | |
| ENST00000550992.1:c.*360C>T | ENSP00000448741.1:n.*360C>T | |
| NM_000476.2:c.340C>T | NP_000467.1:p.Leu114= | |
| XM_005251786.2:c.388C>T | XP_005251843.1:p.Leu130= | |
| XM_011518348.1:c.340C>T | XP_011516650.1:p.Leu114= | |
| XM_011518349.1:c.160C>T | XP_011516651.1:p.Leu54= | |
| NM_001318121.1:c.340C>T | NP_001305050.1:p.Leu114= | |
| NM_001318122.1:c.388C>T | NP_001305051.1:p.Leu130= | |
| XM_017014428.1:c.340C>T | XP_016869917.1:p.Leu114= | |
| XM_024447439.1:c.319C>T | XP_024303207.1:p.Leu107= | |
| XM_024447440.1:c.160C>T | XP_024303208.1:p.Leu54= | |
| NM_001318122.2:c.388C>T | NP_001305051.1:p.Leu130= | |
| NM_000476.3:c.340C>T MANE Select | NP_000467.1:p.Leu114= | |
| NR_174625.1:n.3659C>T | ||
| NR_174626.1:n.3524-22C>T | ||
| NR_174627.1:n.3539C>T | ||
| NR_174628.1:n.2917C>T | ||
| NR_174629.1:n.2862C>T | ||
| NR_174630.1:n.2898C>T | ||
| NR_174631.1:n.2843C>T | ||
| NR_174632.1:n.2932C>T |