Linked Data
dbSNP Id:
rs2277998
ExAC:
19:7831628 G / A
gnomAD v2:
19-7831628-G-A
gnomAD v3:
19-7766742-G-A
gnomAD v4:
19-7766742-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7766742G>A , CM000681.2:g.7766742G>A | GRCh38 |
| NC_000019.9:g.7831628G>A , CM000681.1:g.7831628G>A | GRCh37 |
| NC_000019.8:g.7737628G>A | NCBI36 |
| NG_029190.1:g.8594G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327325.10:c.871G>A MANE Select | ENSP00000316228.4:p.Asp291Asn | |
| ENST00000359059.10:c.787G>A | ENSP00000351954.6:p.Asp263Asn | |
| ENST00000394122.7:c.787G>A | ENSP00000377680.3:p.Asp263Asn | |
| ENST00000248228.8:c.802G>A | ENSP00000248228.5:p.Asp268Asn | |
| ENST00000327325.9:c.871G>A | ENSP00000316228.4:p.Asp291Asn | |
| ENST00000334806.9:c.718G>A | ENSP00000335228.5:p.Asp240Asn | |
| ENST00000359059.9:c.670G>A | ENSP00000351954.5:p.Asp224Asn | |
| ENST00000394122.6:c.835G>A | ENSP00000377680.2:p.Asp279Asn | |
| ENST00000595496.1:c.463G>A | ENSP00000470132.1:p.Asp155Asn | |
| ENST00000595751.5:c.787G>A | ENSP00000470286.1:p.Asp263Asn | |
| ENST00000596363.5:c.787G>A | ENSP00000471125.1:p.Asp263Asn | |
| ENST00000596707.5:c.670G>A | ENSP00000470137.1:p.Asp224Asn | |
| ENST00000597522.5:c.595G>A | ENSP00000471132.1:p.Asp199Asn | |
| ENST00000598879.5:n.1319G>A | ||
| ENST00000599333.1:n.1256G>A | ||
| ENST00000601089.1:n.1156G>A | ||
| ENST00000602143.1:n.149G>A | ||
| NM_001144904.1:c.718G>A | NP_001138376.1:p.Asp240Asn | |
| NM_001144905.1:c.799G>A | NP_001138377.1:p.Asp267Asn | |
| NM_001144906.1:c.463G>A | NP_001138378.1:p.Asp155Asn | |
| NM_001144907.1:c.670G>A | NP_001138379.1:p.Asp224Asn | |
| NM_001144908.1:c.595G>A | NP_001138380.1:p.Asp199Asn | |
| NM_001144909.1:c.733G>A | NP_001138381.1:p.Asp245Asn | |
| NM_001144910.1:c.802G>A | NP_001138382.1:p.Asp268Asn | |
| NM_001144911.1:c.787G>A | NP_001138383.1:p.Asp263Asn | |
| NM_014257.4:c.871G>A | NP_055072.3:p.Asp291Asn | |
| NR_026707.1:n.1437G>A | ||
| NR_026708.1:n.1437G>A | ||
| NR_026709.1:n.1374G>A | ||
| XM_006722611.2:c.868G>A | XP_006722674.1:p.Asp290Asn | |
| XM_006722612.2:c.787G>A | XP_006722675.1:p.Asp263Asn | |
| XM_006722613.2:c.787G>A | XP_006722676.1:p.Asp263Asn | |
| XM_006722614.2:c.703G>A | XP_006722677.1:p.Asp235Asn | |
| XM_006722615.1:c.871G>A | XP_006722678.1:p.Asp291Asn | |
| XR_430125.2:n.989G>A | ||
| XR_936147.1:n.989G>A | ||
| XM_006722612.3:c.787G>A | XP_006722675.1:p.Asp263Asn | |
| XM_006722613.3:c.787G>A | XP_006722676.1:p.Asp263Asn | |
| XM_006722614.3:c.703G>A | XP_006722677.1:p.Asp235Asn | |
| XM_006722615.2:c.871G>A | XP_006722678.1:p.Asp291Asn | |
| XR_001753583.1:n.1450G>A | ||
| XR_001753584.1:n.1156G>A | ||
| XR_936147.2:n.989G>A | ||
| NM_001144904.2:c.718G>A | NP_001138376.1:p.Asp240Asn | |
| NM_001144905.2:c.799G>A | NP_001138377.1:p.Asp267Asn | |
| NM_001144906.2:c.463G>A | NP_001138378.1:p.Asp155Asn | |
| NM_001144907.2:c.670G>A | NP_001138379.1:p.Asp224Asn | |
| NM_001144908.2:c.595G>A | NP_001138380.1:p.Asp199Asn | |
| NM_001144909.2:c.733G>A | NP_001138381.1:p.Asp245Asn | |
| NM_001144910.2:c.802G>A | NP_001138382.1:p.Asp268Asn | |
| NM_001144911.2:c.787G>A | NP_001138383.1:p.Asp263Asn | |
| NM_014257.5:c.871G>A MANE Select | NP_055072.3:p.Asp291Asn | |
| NR_026707.2:n.1343G>A | ||
| NR_026708.2:n.1343G>A | ||
| NR_026709.2:n.1280G>A |