Linked Data
dbSNP Id:
rs781178190
ExAC:
8:11421599 G / A
gnomAD v2:
8-11421599-G-A
gnomAD v3:
8-11564090-G-A
gnomAD v4:
8-11564090-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11564090G>A , CM000670.2:g.11564090G>A | GRCh38 |
| NC_000008.10:g.11421599G>A , CM000670.1:g.11421599G>A | GRCh37 |
| NC_000008.9:g.11459008G>A | NCBI36 |
| NG_023543.1:g.75079G>A | |
| NG_023543.2:g.75079G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696154.2:n.1608G>A | ||
| ENST00000696154.1:c.*818G>A | ENSP00000512445.1:n.*818G>A | |
| ENST00000696155.1:n.384G>A | ||
| ENST00000259089.9:c.1500G>A MANE Select | ENSP00000259089.4:p.Gln500= | |
| ENST00000645242.1:c.1287G>A | ENSP00000494690.1:p.Gln429= | |
| ENST00000259089.8:c.1500G>A | ENSP00000259089.4:p.Gln500= | |
| ENST00000526097.1:n.1440G>A | ||
| ENST00000529894.1:c.1287G>A | ENSP00000433663.1:p.Gln429= | |
| NM_001715.2:c.1500G>A | NP_001706.2:p.Gln500= | |
| XM_011543824.1:c.1578G>A | XP_011542126.1:p.Gln526= | |
| XM_011543825.1:c.1578G>A | XP_011542127.1:p.Gln526= | |
| XM_011543826.1:c.1578G>A | XP_011542128.1:p.Gln526= | |
| XM_011543827.1:c.1365G>A | XP_011542129.1:p.Gln455= | |
| NM_001330465.1:c.1287G>A | NP_001317394.1:p.Gln429= | |
| XM_011543825.3:c.1578G>A | XP_011542127.1:p.Gln526= | |
| NM_001715.3:c.1500G>A MANE Select | NP_001706.2:p.Gln500= | |
| NM_001330465.2:c.1287G>A | NP_001317394.1:p.Gln429= |