Linked Data
ClinVar Variation Id:
306804
dbSNP Id:
rs141529327
ExAC:
12:102158070 C / T
gnomAD v2:
12-102158070-C-T
gnomAD v3:
12-101764292-C-T
gnomAD v4:
12-101764292-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101764292C>T , CM000674.2:g.101764292C>T | GRCh38 |
| NC_000012.11:g.102158070C>T , CM000674.1:g.102158070C>T | GRCh37 |
| NC_000012.10:g.100682201C>T | NCBI36 |
| NG_021243.1:g.71576G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.2625G>A MANE Select | ENSP00000299314.7:p.Val875= | |
| ENST00000299314.11:c.2625G>A | ENSP00000299314.7:p.Val875= | |
| NM_024312.4:c.2625G>A | NP_077288.2:p.Val875= | |
| XM_006719593.2:c.2625G>A | XP_006719656.1:p.Val875= | |
| XM_011538731.1:c.2544G>A | XP_011537033.1:p.Val848= | |
| XM_006719593.3:c.2625G>A | XP_006719656.1:p.Val875= | |
| XM_011538731.2:c.2544G>A | XP_011537033.1:p.Val848= | |
| XM_017019961.1:c.2409G>A | XP_016875450.1:p.Val803= | |
| XM_017019962.2:c.1398G>A | XP_016875451.1:p.Val466= | |
| NM_024312.5:c.2625G>A MANE Select | NP_077288.2:p.Val875= |