Linked Data
ClinVar Variation Id:
1603468
ClinVar RCV Id:
RCV002142060
dbSNP Id:
rs754249799
ExAC:
11:34938284 C / T
gnomAD v2:
11-34938284-C-T
gnomAD v3:
11-34916737-C-T
gnomAD v4:
11-34916737-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34916737C>T , CM000673.2:g.34916737C>T | GRCh38 |
| NC_000011.9:g.34938284C>T , CM000673.1:g.34938284C>T | GRCh37 |
| NC_000011.8:g.34894860C>T | NCBI36 |
| NG_013368.1:g.5608C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448838.8:c.-21+251C>T | ENSP00000389404.3:n.-21+251C>T | |
| ENST00000227868.9:c.82C>T MANE Select | ENSP00000227868.4:p.Leu28= | |
| ENST00000227868.8:c.82C>T | ENSP00000227868.4:p.Leu28= | |
| ENST00000430469.6:c.82C>T | ENSP00000415695.2:p.Leu28= | |
| ENST00000448838.7:c.115+251C>T | ENSP00000389404.2:n.115+251C>T | |
| ENST00000533262.1:c.82C>T | ENSP00000432277.1:p.Leu28= | |
| ENST00000533550.5:c.-21+799C>T | ENSP00000431281.1:n.-21+799C>T | |
| NM_001135024.1:c.115+251C>T | NP_001128496.1:n.115+251C>T | |
| NM_001166158.1:c.82C>T | NP_001159630.1:p.Leu28= | |
| NM_003477.2:c.82C>T | NP_003468.2:p.Leu28= | |
| XM_011520390.1:c.-21+799C>T | XP_011518692.1:n.-21+799C>T | |
| NM_003477.3:c.82C>T MANE Select | NP_003468.2:p.Leu28= | |
| NM_001135024.2:c.-21+251C>T | NP_001128496.2:n.-21+251C>T | |
| NM_001166158.2:c.82C>T | NP_001159630.1:p.Leu28= |