Linked Data
dbSNP Id:
rs761271981
ExAC:
9:130630695 C / T
gnomAD v2:
9-130630695-C-T
gnomAD v3:
9-127868416-C-T
gnomAD v4:
9-127868416-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127868416C>T , CM000671.2:g.127868416C>T | GRCh38 |
| NC_000009.11:g.130630695C>T , CM000671.1:g.130630695C>T | GRCh37 |
| NC_000009.10:g.129670516C>T | NCBI36 |
| NG_011792.1:g.14328G>A | |
| NG_011792.2:g.14328G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476274.7:n.921G>A | ||
| ENST00000643029.1:c.*2096G>A | ENSP00000496586.1:n.*2096G>A | |
| ENST00000643338.1:c.*1985G>A | ENSP00000495890.1:n.*1985G>A | |
| ENST00000644144.2:c.421G>A MANE Select | ENSP00000494600.1:p.Asp141Asn | |
| ENST00000645007.1:c.*2345G>A | ENSP00000494773.1:n.*2345G>A | |
| ENST00000646171.1:c.*454G>A | ENSP00000495484.1:n.*454G>A | |
| ENST00000223836.10:c.469G>A | ENSP00000223836.10:p.Asp157Asn | |
| ENST00000373156.5:c.421G>A | ENSP00000362249.1:p.Asp141Asn | |
| ENST00000373176.5:c.421G>A | ENSP00000362271.1:p.Asp141Asn | |
| ENST00000413016.5:c.243G>A | ||
| ENST00000550143.5:c.201G>A | ENSP00000449130.1:n.201G>A | |
| NM_000476.2:c.421G>A | NP_000467.1:p.Asp141Asn | |
| XM_005251786.2:c.469G>A | XP_005251843.1:p.Asp157Asn | |
| XM_011518348.1:c.421G>A | XP_011516650.1:p.Asp141Asn | |
| XM_011518349.1:c.241G>A | XP_011516651.1:p.Asp81Asn | |
| NM_001318121.1:c.421G>A | NP_001305050.1:p.Asp141Asn | |
| NM_001318122.1:c.469G>A | NP_001305051.1:p.Asp157Asn | |
| XM_017014428.1:c.421G>A | XP_016869917.1:p.Asp141Asn | |
| XM_024447439.1:c.400G>A | XP_024303207.1:p.Asp134Asn | |
| XM_024447440.1:c.241G>A | XP_024303208.1:p.Asp81Asn | |
| NM_001318122.2:c.469G>A | NP_001305051.1:p.Asp157Asn | |
| NM_000476.3:c.421G>A MANE Select | NP_000467.1:p.Asp141Asn | |
| NR_174625.1:n.3740G>A | ||
| NR_174626.1:n.3583G>A | ||
| NR_174627.1:n.3620G>A | ||
| NR_174628.1:n.2998G>A | ||
| NR_174629.1:n.2943G>A | ||
| NR_174630.1:n.2979G>A | ||
| NR_174631.1:n.2924G>A | ||
| NR_174632.1:n.3013G>A |