Linked Data
ClinVar Variation Id:
456335
dbSNP Id:
rs370495748
ExAC:
16:3632598 C / T
gnomAD v2:
16-3632598-C-T
gnomAD v3:
16-3582597-C-T
gnomAD v4:
16-3582597-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3582597C>T , CM000678.2:g.3582597C>T | GRCh38 |
| NC_000016.9:g.3632598C>T , CM000678.1:g.3632598C>T | GRCh37 |
| NC_000016.8:g.3572599C>T | NCBI36 |
| NG_028123.1:g.33988G>A , LRG_503:g.33988G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294008.4:c.5250G>A MANE Select | ENSP00000294008.3:p.Ala1750= | |
| ENST00000294008.3:c.5250G>A | ENSP00000294008.3:p.Ala1750= | |
| NM_032444.2:c.5250G>A , LRG_503t1:c.5250G>A | NP_115820.2:p.Ala1750= | |
| XM_011522715.1:c.5247G>A | XP_011521017.1:p.Ala1749= | |
| NM_032444.3:c.5250G>A | NP_115820.2:p.Ala1750= | |
| XM_011522715.3:c.5247G>A | XP_011521017.1:p.Ala1749= | |
| XM_017023775.2:c.4428G>A | XP_016879264.1:p.Ala1476= | |
| XM_024450471.1:c.5250G>A | XP_024306239.1:p.Ala1750= | |
| NM_032444.4:c.5250G>A MANE Select | NP_115820.2:p.Ala1750= |