Linked Data
ClinVar Variation Id:
56116
dbSNP Id:
rs1800456
ExAC:
10:126086520 C / A
gnomAD v2:
10-126086520-C-A
gnomAD v3:
10-124397951-C-A
gnomAD v4:
10-124397951-C-A
PubMed:
PMID:23076989
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124397951C>A , CM000672.2:g.124397951C>A | GRCh38 |
| NC_000010.10:g.126086520C>A , CM000672.1:g.126086520C>A | GRCh37 |
| NC_000010.9:g.126076510C>A | NCBI36 |
| NG_008861.1:g.26000G>T , LRG_685:g.26000G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368845.6:c.1311G>T MANE Select | ENSP00000357838.5:p.Leu437Phe | |
| ENST00000368845.5:c.1311G>T | ENSP00000357838.5:p.Leu437Phe | |
| ENST00000539214.5:c.897G>T | ENSP00000439042.1:p.Leu299Phe | |
| NM_000274.3:c.1311G>T , LRG_685t1:c.1311G>T | NP_000265.1:p.Leu437Phe | |
| NM_001171814.1:c.897G>T | NP_001165285.1:p.Leu299Phe | |
| XM_006717871.2:c.1311G>T | XP_006717934.1:p.Leu437Phe | |
| XM_011539833.1:c.1311G>T | XP_011538135.1:p.Leu437Phe | |
| XM_011539834.1:c.1311G>T | XP_011538136.1:p.Leu437Phe | |
| NM_001322965.1:c.1311G>T | NP_001309894.1:p.Leu437Phe | |
| NM_001322966.1:c.1311G>T | NP_001309895.1:p.Leu437Phe | |
| NM_001322967.1:c.1311G>T | NP_001309896.1:p.Leu437Phe | |
| NM_001322968.1:c.1311G>T | NP_001309897.1:p.Leu437Phe | |
| NM_001322969.1:c.1311G>T | NP_001309898.1:p.Leu437Phe | |
| NM_001322970.1:c.1311G>T | NP_001309899.1:p.Leu437Phe | |
| NM_001322971.1:c.990G>T | NP_001309900.1:p.Leu330Phe | |
| NM_001322974.1:c.711G>T | NP_001309903.1:p.Leu237Phe | |
| XM_017016279.1:c.711G>T | XP_016871768.1:p.Leu237Phe | |
| NM_000274.4:c.1311G>T MANE Select | NP_000265.1:p.Leu437Phe | |
| NM_001322965.2:c.1311G>T | NP_001309894.1:p.Leu437Phe | |
| NM_001322966.2:c.1311G>T | NP_001309895.1:p.Leu437Phe | |
| NM_001322967.2:c.1311G>T | NP_001309896.1:p.Leu437Phe | |
| NM_001322968.2:c.1311G>T | NP_001309897.1:p.Leu437Phe | |
| NM_001322969.2:c.1311G>T | NP_001309898.1:p.Leu437Phe | |
| NM_001322970.2:c.1311G>T | NP_001309899.1:p.Leu437Phe | |
| NM_001322971.2:c.990G>T | NP_001309900.1:p.Leu330Phe | |
| NM_001322974.2:c.711G>T | NP_001309903.1:p.Leu237Phe | |
| NM_001171814.2:c.897G>T | NP_001165285.1:p.Leu299Phe |