Linked Data
ClinVar Variation Id:
514184
ClinVar RCV Id:
RCV000604622
dbSNP Id:
rs945019622
gnomAD v4:
3-49723288-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49723288G>A , CM000665.2:g.49723288G>A | GRCh38 |
| NC_000003.11:g.49760721G>A , CM000665.1:g.49760721G>A | GRCh37 |
| NC_000003.10:g.49735725G>A | NCBI36 |
| NG_011603.1:g.38732G>A | |
| NG_033731.1:g.5687C>T | |
| NG_033731.2:g.5687C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308388.7:c.225C>T MANE Select | ENSP00000311130.6:p.Ile75= | |
| ENST00000481959.2:n.442C>T | ||
| ENST00000495627.2:c.225C>T | ENSP00000503768.1:p.Ile75= | |
| ENST00000677393.1:c.225C>T | ENSP00000503880.1:p.Ile75= | |
| ENST00000678010.1:c.225C>T | ENSP00000503176.1:p.Ile75= | |
| ENST00000678208.1:n.442C>T | ||
| ENST00000678853.1:c.225C>T | ENSP00000504692.1:p.Ile75= | |
| ENST00000308375.10:c.225C>T | ENSP00000309092.6:p.Ile75= | |
| ENST00000308388.6:c.225C>T | ENSP00000311130.6:p.Ile75= | |
| ENST00000480687.5:c.225C>T | ENSP00000418565.1:p.Ile75= | |
| ENST00000481959.1:n.527C>T | ||
| ENST00000495627.1:n.415C>T | ||
| NM_013334.3:c.225C>T | NP_037466.2:p.Ile75= | |
| NM_021971.2:c.225C>T | NP_068806.1:p.Ile75= | |
| NM_021971.4:c.225C>T MANE Select | NP_068806.2:p.Ile75= | |
| NM_013334.4:c.225C>T | NP_037466.3:p.Ile75= |