Linked Data
ClinVar Variation Id:
2486583
ClinVar RCV Id:
RCV004275199
dbSNP Id:
rs758511084
ExAC:
8:37823614 A / G
gnomAD v2:
8-37823614-A-G
gnomAD v3:
8-37966096-A-G
gnomAD v4:
8-37966096-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966096A>G , CM000670.2:g.37966096A>G | GRCh38 |
| NC_000008.10:g.37823614A>G , CM000670.1:g.37823614A>G | GRCh37 |
| NC_000008.9:g.37942771A>G | NCBI36 |
| NG_011936.1:g.5571T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.374T>C MANE Select | ENSP00000343782.3:p.Ile125Thr | |
| ENST00000520341.2:n.502T>C | ||
| ENST00000345060.4:c.374T>C | ENSP00000343782.3:p.Ile125Thr | |
| ENST00000614635.1:c.374T>C | ENSP00000480325.1:p.Ile125Thr | |
| NM_000025.2:c.374T>C | NP_000016.1:p.Ile125Thr | |
| NM_000025.3:c.374T>C MANE Select | NP_000016.1:p.Ile125Thr |