Linked Data
ClinVar Variation Id:
56115
dbSNP Id:
rs386833598
ExAC:
10:126086524 A / T
gnomAD v2:
10-126086524-A-T
gnomAD v3:
10-124397955-A-T
gnomAD v4:
10-124397955-A-T
PubMed:
PMID:23076989
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124397955A>T , CM000672.2:g.124397955A>T | GRCh38 |
| NC_000010.10:g.126086524A>T , CM000672.1:g.126086524A>T | GRCh37 |
| NC_000010.9:g.126076514A>T | NCBI36 |
| NG_008861.1:g.25996T>A , LRG_685:g.25996T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368845.6:c.1307T>A MANE Select | ENSP00000357838.5:p.Ile436Asn | |
| ENST00000368845.5:c.1307T>A | ENSP00000357838.5:p.Ile436Asn | |
| ENST00000539214.5:c.893T>A | ENSP00000439042.1:p.Ile298Asn | |
| NM_000274.3:c.1307T>A , LRG_685t1:c.1307T>A | NP_000265.1:p.Ile436Asn | |
| NM_001171814.1:c.893T>A | NP_001165285.1:p.Ile298Asn | |
| XM_006717871.2:c.1307T>A | XP_006717934.1:p.Ile436Asn | |
| XM_011539833.1:c.1307T>A | XP_011538135.1:p.Ile436Asn | |
| XM_011539834.1:c.1307T>A | XP_011538136.1:p.Ile436Asn | |
| NM_001322965.1:c.1307T>A | NP_001309894.1:p.Ile436Asn | |
| NM_001322966.1:c.1307T>A | NP_001309895.1:p.Ile436Asn | |
| NM_001322967.1:c.1307T>A | NP_001309896.1:p.Ile436Asn | |
| NM_001322968.1:c.1307T>A | NP_001309897.1:p.Ile436Asn | |
| NM_001322969.1:c.1307T>A | NP_001309898.1:p.Ile436Asn | |
| NM_001322970.1:c.1307T>A | NP_001309899.1:p.Ile436Asn | |
| NM_001322971.1:c.986T>A | NP_001309900.1:p.Ile329Asn | |
| NM_001322974.1:c.707T>A | NP_001309903.1:p.Ile236Asn | |
| XM_017016279.1:c.707T>A | XP_016871768.1:p.Ile236Asn | |
| NM_000274.4:c.1307T>A MANE Select | NP_000265.1:p.Ile436Asn | |
| NM_001322965.2:c.1307T>A | NP_001309894.1:p.Ile436Asn | |
| NM_001322966.2:c.1307T>A | NP_001309895.1:p.Ile436Asn | |
| NM_001322967.2:c.1307T>A | NP_001309896.1:p.Ile436Asn | |
| NM_001322968.2:c.1307T>A | NP_001309897.1:p.Ile436Asn | |
| NM_001322969.2:c.1307T>A | NP_001309898.1:p.Ile436Asn | |
| NM_001322970.2:c.1307T>A | NP_001309899.1:p.Ile436Asn | |
| NM_001322971.2:c.986T>A | NP_001309900.1:p.Ile329Asn | |
| NM_001322974.2:c.707T>A | NP_001309903.1:p.Ile236Asn | |
| NM_001171814.2:c.893T>A | NP_001165285.1:p.Ile298Asn |