Linked Data
ClinVar Variation Id:
364314
ClinVar RCV Id:
RCV000265668
dbSNP Id:
rs886063292
gnomAD v4:
9-101428473-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101428473A>G , CM000671.2:g.101428473A>G | GRCh38 |
| NC_000009.11:g.104190755A>G , CM000671.1:g.104190755A>G | GRCh37 |
| NC_000009.10:g.103230576A>G | NCBI36 |
| NG_012387.1:g.12308T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.375T>C MANE Select | ENSP00000497767.1:p.Ile125= | |
| ENST00000648064.1:c.375T>C | ENSP00000497990.1:p.Ile125= | |
| ENST00000648758.1:c.375T>C | ENSP00000497731.1:p.Ile125= | |
| ENST00000649902.1:c.375T>C | ENSP00000497216.1:p.Ile125= | |
| ENST00000374855.8:c.375T>C | ENSP00000363988.4:p.Ile125= | |
| ENST00000468981.3:n.67+1336T>C | ||
| ENST00000616752.1:c.375T>C | ENSP00000481363.1:p.Ile125= | |
| NM_000035.3:c.375T>C | NP_000026.2:p.Ile125= | |
| NM_000035.4:c.375T>C MANE Select | NP_000026.2:p.Ile125= |