Linked Data
ClinVar Variation Id:
1954686
ClinVar RCV Id:
RCV002715093
dbSNP Id:
rs745702281
ExAC:
1:215972310 A / T
gnomAD v2:
1-215972310-A-T
gnomAD v4:
1-215798968-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215798968A>T , CM000663.2:g.215798968A>T | GRCh38 |
| NC_000001.10:g.215972310A>T , CM000663.1:g.215972310A>T | GRCh37 |
| NC_000001.9:g.214038933A>T | NCBI36 |
| NG_009497.1:g.629429T>A | |
| NG_009497.2:g.629481T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.9897T>A MANE Select | ENSP00000305941.3:p.Ile3299= | |
| ENST00000674083.1:c.9897T>A | ENSP00000501296.1:p.Ile3299= | |
| ENST00000307340.7:c.9897T>A | ENSP00000305941.3:p.Ile3299= | |
| NM_206933.2:c.9897T>A | NP_996816.2:p.Ile3299= | |
| NM_206933.3:c.9897T>A | NP_996816.2:p.Ile3299= | |
| NM_206933.4:c.9897T>A MANE Select | NP_996816.3:p.Ile3299= |