Linked Data
dbSNP Id:
rs766477881
ExAC:
7:99358497 A / G
gnomAD v2:
7-99358497-A-G
gnomAD v4:
7-99760874-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99760874A>G , CM000669.2:g.99760874A>G | GRCh38 |
| NC_000007.13:g.99358497A>G , CM000669.1:g.99358497A>G | GRCh37 |
| NC_000007.12:g.99196433A>G | NCBI36 |
| NG_008421.1:g.28312T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.1454T>C | ENSP00000337915.3:p.Leu485Pro | |
| ENST00000651162.1:n.796T>C | ||
| ENST00000651514.1:c.1361T>C MANE Select | ENSP00000498939.1:p.Leu454Pro | |
| ENST00000651783.1:c.902T>C | ENSP00000498924.1:p.Leu301Pro | |
| ENST00000652018.1:c.1214T>C | ENSP00000498733.1:p.Leu405Pro | |
| ENST00000336411.6:c.1361T>C | ENSP00000337915.2:p.Leu454Pro | |
| ENST00000354593.6:c.911T>C | ENSP00000346607.2:p.Leu304Pro | |
| NM_001202855.2:c.1358T>C | NP_001189784.1:p.Leu453Pro | |
| NM_017460.5:c.1361T>C | NP_059488.2:p.Leu454Pro | |
| XM_011515841.1:c.1454T>C | XP_011514143.1:p.Leu485Pro | |
| XM_011515842.1:c.1451T>C | XP_011514144.1:p.Leu484Pro | |
| NM_017460.6:c.1361T>C MANE Select | NP_059488.2:p.Leu454Pro | |
| NM_001202855.3:c.1358T>C | NP_001189784.1:p.Leu453Pro |