Linked Data
dbSNP Id:
rs147762231
gnomAD v2:
9-130630671-G-T
gnomAD v3:
9-127868392-G-T
gnomAD v4:
9-127868392-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127868392G>T , CM000671.2:g.127868392G>T | GRCh38 |
| NC_000009.11:g.130630671G>T , CM000671.1:g.130630671G>T | GRCh37 |
| NC_000009.10:g.129670492G>T | NCBI36 |
| NG_011792.1:g.14352C>A | |
| NG_011792.2:g.14352C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476274.7:n.945C>A | ||
| ENST00000643029.1:c.*2120C>A | ENSP00000496586.1:n.*2120C>A | |
| ENST00000643338.1:c.*2009C>A | ENSP00000495890.1:n.*2009C>A | |
| ENST00000644144.2:c.445C>A MANE Select | ENSP00000494600.1:p.Arg149= | |
| ENST00000645007.1:c.*2369C>A | ENSP00000494773.1:n.*2369C>A | |
| ENST00000646171.1:c.*478C>A | ENSP00000495484.1:n.*478C>A | |
| ENST00000223836.10:c.493C>A | ENSP00000223836.10:p.Arg165= | |
| ENST00000373156.5:c.445C>A | ENSP00000362249.1:p.Arg149= | |
| ENST00000373176.5:c.445C>A | ENSP00000362271.1:p.Arg149= | |
| ENST00000413016.5:c.267C>A | ||
| ENST00000550143.5:c.225C>A | ENSP00000449130.1:n.225C>A | |
| NM_000476.2:c.445C>A | NP_000467.1:p.Arg149= | |
| XM_005251786.2:c.493C>A | XP_005251843.1:p.Arg165= | |
| XM_011518348.1:c.445C>A | XP_011516650.1:p.Arg149= | |
| XM_011518349.1:c.265C>A | XP_011516651.1:p.Arg89= | |
| NM_001318121.1:c.445C>A | NP_001305050.1:p.Arg149= | |
| NM_001318122.1:c.493C>A | NP_001305051.1:p.Arg165= | |
| XM_017014428.1:c.445C>A | XP_016869917.1:p.Arg149= | |
| XM_024447439.1:c.424C>A | XP_024303207.1:p.Arg142= | |
| XM_024447440.1:c.265C>A | XP_024303208.1:p.Arg89= | |
| NM_001318122.2:c.493C>A | NP_001305051.1:p.Arg165= | |
| NM_000476.3:c.445C>A MANE Select | NP_000467.1:p.Arg149= | |
| NR_174625.1:n.3764C>A | ||
| NR_174626.1:n.3607C>A | ||
| NR_174627.1:n.3644C>A | ||
| NR_174628.1:n.3022C>A | ||
| NR_174629.1:n.2967C>A | ||
| NR_174630.1:n.3003C>A | ||
| NR_174631.1:n.2948C>A | ||
| NR_174632.1:n.3037C>A |