Linked Data
ClinVar Variation Id:
220400
dbSNP Id:
rs371885410
ExAC:
3:93595864 C / T
gnomAD v2:
3-93595864-C-T
gnomAD v3:
3-93877020-C-T
gnomAD v4:
3-93877020-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93877020C>T , CM000665.2:g.93877020C>T | GRCh38 |
| NC_000003.11:g.93595864C>T , CM000665.1:g.93595864C>T | GRCh37 |
| NC_000003.10:g.95078554C>T | NCBI36 |
| NG_009813.1:g.102071G>A , LRG_572:g.102071G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.1816G>A | ENSP00000330021.7:p.Val606Ile | |
| ENST00000394236.9:c.1816G>A MANE Select | ENSP00000377783.3:p.Val606Ile | |
| ENST00000407433.6:c.1771G>A | ENSP00000385794.2:p.Val591Ile | |
| ENST00000647936.1:c.1644+2143G>A | ENSP00000496822.1:n.1644+2143G>A | |
| ENST00000648381.1:n.1984G>A | ||
| ENST00000648853.1:c.1774G>A | ENSP00000497262.1:p.Val592Ile | |
| ENST00000649585.1:c.759G>A | ENSP00000498163.1:n.759G>A | |
| ENST00000650591.1:c.1912G>A | ENSP00000497376.1:p.Val638Ile | |
| ENST00000394236.7:c.1816G>A | ENSP00000377783.3:p.Val606Ile | |
| ENST00000407433.5:c.1423G>A | ENSP00000385794.1:p.Val475Ile | |
| NM_000313.3:c.1816G>A , LRG_572t1:c.1816G>A | NP_000304.2:p.Val606Ile | |
| NM_001314077.1:c.1912G>A , LRG_572t2:c.1912G>A | NP_001301006.1:p.Val638Ile | |
| NM_000313.4:c.1816G>A MANE Select | NP_000304.2:p.Val606Ile | |
| NM_001314077.2:c.1912G>A | NP_001301006.1:p.Val638Ile |