Linked Data
ClinVar Variation Id:
1421194
ClinVar RCV Id:
RCV001943731
dbSNP Id:
rs1013824488
gnomAD v2:
3-49160729-C-T
gnomAD v3:
3-49123296-C-T
gnomAD v4:
3-49123296-C-T
COSMIC:
COSM5418332
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49123296C>T , CM000665.2:g.49123296C>T | GRCh38 |
| NC_000003.11:g.49160729C>T , CM000665.1:g.49160729C>T | GRCh37 |
| NC_000003.10:g.49135733C>T | NCBI36 |
| NG_008094.1:g.14871G>A | |
| NG_054716.1:g.2643G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.4060G>A MANE Select | ENSP00000307156.4:p.Val1354Ile | |
| ENST00000305544.8:c.4060G>A | ENSP00000307156.4:p.Val1354Ile | |
| ENST00000418109.5:c.4060G>A | ENSP00000388325.1:p.Val1354Ile | |
| ENST00000469665.1:n.290G>A | ||
| NM_002292.3:c.4060G>A | NP_002283.3:p.Val1354Ile | |
| XM_005265127.3:c.4060G>A | XP_005265184.1:p.Val1354Ile | |
| XM_005265127.4:c.4060G>A | XP_005265184.1:p.Val1354Ile | |
| NM_002292.4:c.4060G>A MANE Select | NP_002283.3:p.Val1354Ile |