Linked Data
ClinVar Variation Id:
792235
ClinVar RCV Id:
RCV000975326
dbSNP Id:
rs947905285
gnomAD v2:
12-102163874-A-G
gnomAD v4:
12-101770096-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101770096A>G , CM000674.2:g.101770096A>G | GRCh38 |
| NC_000012.11:g.102163874A>G , CM000674.1:g.102163874A>G | GRCh37 |
| NC_000012.10:g.100688005A>G | NCBI36 |
| NG_021243.1:g.65772T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.1209T>C MANE Select | ENSP00000299314.7:p.Ile403= | |
| ENST00000299314.11:c.1209T>C | ENSP00000299314.7:p.Ile403= | |
| ENST00000549940.5:c.1209T>C | ENSP00000449150.1:p.Ile403= | |
| NM_024312.4:c.1209T>C | NP_077288.2:p.Ile403= | |
| XM_006719593.2:c.1209T>C | XP_006719656.1:p.Ile403= | |
| XM_011538731.1:c.1128T>C | XP_011537033.1:p.Ile376= | |
| XM_006719593.3:c.1209T>C | XP_006719656.1:p.Ile403= | |
| XM_011538731.2:c.1128T>C | XP_011537033.1:p.Ile376= | |
| XM_017019961.1:c.993T>C | XP_016875450.1:p.Ile331= | |
| XM_017019962.2:c.-19T>C | XP_016875451.1:n.-19T>C | |
| NM_024312.5:c.1209T>C MANE Select | NP_077288.2:p.Ile403= |