Linked Data
ClinVar Variation Id:
284195
dbSNP Id:
rs148918729
ExAC:
12:102154926 G / A
gnomAD v2:
12-102154926-G-A
gnomAD v3:
12-101761148-G-A
gnomAD v4:
12-101761148-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101761148G>A , CM000674.2:g.101761148G>A | GRCh38 |
| NC_000012.11:g.102154926G>A , CM000674.1:g.102154926G>A | GRCh37 |
| NC_000012.10:g.100679057G>A | NCBI36 |
| NG_021243.1:g.74720C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3114C>T MANE Select | ENSP00000299314.7:p.His1038= | |
| ENST00000299314.11:c.3114C>T | ENSP00000299314.7:p.His1038= | |
| NM_024312.4:c.3114C>T | NP_077288.2:p.His1038= | |
| XM_006719593.2:c.3114C>T | XP_006719656.1:p.His1038= | |
| XM_011538731.1:c.3033C>T | XP_011537033.1:p.His1011= | |
| XM_006719593.3:c.3114C>T | XP_006719656.1:p.His1038= | |
| XM_011538731.2:c.3033C>T | XP_011537033.1:p.His1011= | |
| XM_017019961.1:c.2898C>T | XP_016875450.1:p.His966= | |
| XM_017019962.2:c.1887C>T | XP_016875451.1:p.His629= | |
| NM_024312.5:c.3114C>T MANE Select | NP_077288.2:p.His1038= |