Linked Data
ClinVar Variation Id:
3000294
ClinVar RCV Id:
RCV003857469
dbSNP Id:
rs972961523
gnomAD v2:
6-15523218-G-A
gnomAD v4:
6-15522987-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.15522987G>A , CM000668.2:g.15522987G>A | GRCh38 |
| NC_000006.11:g.15523218G>A , CM000668.1:g.15523218G>A | GRCh37 |
| NC_000006.10:g.15631197G>A | NCBI36 |
| NG_009309.1:g.145054C>T , LRG_588:g.145054C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344537.10:c.1044C>T MANE Select | ENSP00000341680.6:p.Asp348= | |
| ENST00000344537.9:c.1044C>T | ENSP00000341680.5:p.Asp348= | |
| ENST00000355917.7:c.993C>T | ENSP00000348183.4:p.Asp331= | |
| ENST00000462989.6:c.576C>T | ENSP00000427239.1:p.Asp192= | |
| ENST00000510395.5:c.*954C>T | ENSP00000424685.1:n.*954C>T | |
| ENST00000513680.5:c.*1044C>T | ENSP00000424357.1:n.*1044C>T | |
| ENST00000515875.5:c.*368C>T | ENSP00000425495.1:n.*368C>T | |
| ENST00000622898.4:c.939C>T | ENSP00000481997.1:p.Asp313= | |
| NM_001271667.1:c.801C>T | NP_001258596.1:p.Asp267= | |
| NM_001271668.1:c.993C>T | NP_001258597.1:p.Asp331= | |
| NM_001271669.1:c.939C>T | NP_001258598.1:p.Asp313= | |
| NM_032122.4:c.1044C>T , LRG_588t1:c.1044C>T | NP_115498.2:p.Asp348= | |
| XM_005249447.3:c.1005C>T | XP_005249504.1:p.Asp335= | |
| XM_011514936.1:c.954C>T | XP_011513238.1:p.Asp318= | |
| XM_011514937.1:c.576C>T | XP_011513239.1:p.Asp192= | |
| XM_005249447.4:c.1005C>T | XP_005249504.1:p.Asp335= | |
| XM_011514936.3:c.954C>T | XP_011513238.1:p.Asp318= | |
| XM_011514937.2:c.576C>T | XP_011513239.1:p.Asp192= | |
| XM_017011348.1:c.594C>T | XP_016866837.1:p.Asp198= | |
| XM_017011349.1:c.591C>T | XP_016866838.1:p.Asp197= | |
| XM_024446567.1:c.645C>T | XP_024302335.1:p.Asp215= | |
| NM_032122.5:c.1044C>T MANE Select | NP_115498.2:p.Asp348= | |
| NM_001271667.2:c.801C>T | NP_001258596.1:p.Asp267= | |
| NM_001271668.2:c.993C>T | NP_001258597.1:p.Asp331= | |
| NM_001271669.2:c.939C>T | NP_001258598.1:p.Asp313= |