Linked Data
dbSNP Id:
rs1313183110
gnomAD v2:
4-155490782-T-C
gnomAD v3:
4-154569630-T-C
gnomAD v4:
4-154569630-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154569630T>C , CM000666.2:g.154569630T>C | GRCh38 |
| NC_000004.11:g.155490782T>C , CM000666.1:g.155490782T>C | GRCh37 |
| NC_000004.10:g.155710232T>C | NCBI36 |
| NG_008833.1:g.11651T>C , LRG_558:g.11651T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.1075T>C MANE Select | ENSP00000306099.4:p.Phe359Leu | |
| ENST00000302068.8:c.1075T>C | ENSP00000306099.4:p.Phe359Leu | |
| ENST00000502545.5:n.939+323T>C | ||
| ENST00000509493.1:c.418T>C | ENSP00000426757.1:p.Phe140Leu | |
| NM_001184741.1:c.898T>C | NP_001171670.1:p.Phe300Leu | |
| NM_005141.4:c.1075T>C , LRG_558t1:c.1075T>C | NP_005132.2:p.Phe359Leu | |
| NM_001382759.1:c.943T>C | NP_001369688.1:p.Phe315Leu | |
| NM_001382760.1:c.1075T>C | NP_001369689.1:p.Phe359Leu | |
| NM_001382761.1:c.1075T>C | NP_001369690.1:p.Phe359Leu | |
| NM_001382762.1:c.775T>C | NP_001369691.1:p.Phe259Leu | |
| NM_001382763.1:c.1066T>C | NP_001369692.1:p.Phe356Leu | |
| NM_001382764.1:c.1075T>C | NP_001369693.1:p.Phe359Leu | |
| NM_001382765.1:c.1075T>C | NP_001369694.1:p.Phe359Leu | |
| NM_005141.5:c.1075T>C MANE Select | NP_005132.2:p.Phe359Leu |