Linked Data
dbSNP Id:
rs1803607958
gnomAD v4:
8-37765734-A-G
MyVariant Identifiers:
chr8:g.37623252A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37765734A>G , CM000670.2:g.37765734A>G | GRCh38 |
| NC_000008.10:g.37623252A>G , CM000670.1:g.37623252A>G | GRCh37 |
| NC_000008.9:g.37742410A>G | NCBI36 |
| NG_053030.1:g.8982A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328195.8:c.231A>G MANE Select | ENSP00000333551.3:p.Ala77= | |
| ENST00000328195.7:c.231A>G | ENSP00000333551.3:p.Ala77= | |
| ENST00000518036.5:c.*83A>G | ENSP00000428005.1:n.*83A>G | |
| ENST00000520073.5:n.296A>G | ||
| ENST00000523187.5:c.75A>G | ENSP00000427886.1:p.Ala25= | |
| ENST00000523358.5:c.231A>G | ENSP00000427778.1:p.Ala77= | |
| ENST00000523994.1:n.236A>G | ||
| NM_007198.3:c.231A>G | NP_009129.1:p.Ala77= | |
| NM_001349346.1:c.231A>G | NP_001336275.1:p.Ala77= | |
| NM_001349347.1:c.225A>G | NP_001336276.1:p.Ala75= | |
| NM_001349348.1:c.75A>G | NP_001336277.1:p.Ala25= | |
| NM_001349349.1:c.336A>G | NP_001336278.1:p.Ala112= | |
| NM_007198.4:c.231A>G MANE Select | NP_009129.1:p.Ala77= | |
| NM_001349346.2:c.231A>G | NP_001336275.1:p.Ala77= | |
| NM_001349347.2:c.225A>G | NP_001336276.1:p.Ala75= | |
| NM_001349348.2:c.75A>G | NP_001336277.1:p.Ala25= |