Linked Data
dbSNP Id:
rs756730062
ExAC:
7:99367433 A / G
gnomAD v2:
7-99367433-A-G
gnomAD v4:
7-99769810-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99769810A>G , CM000669.2:g.99769810A>G | GRCh38 |
| NC_000007.13:g.99367433A>G , CM000669.1:g.99367433A>G | GRCh37 |
| NC_000007.12:g.99205369A>G | NCBI36 |
| NG_008421.1:g.19376T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.479T>C | ENSP00000337915.3:p.Leu160Pro | |
| ENST00000651514.1:c.479T>C MANE Select | ENSP00000498939.1:p.Leu160Pro | |
| ENST00000651783.1:c.58-1303T>C | ENSP00000498924.1:n.58-1303T>C | |
| ENST00000652018.1:c.332T>C | ENSP00000498733.1:p.Leu111Pro | |
| ENST00000336411.6:c.479T>C | ENSP00000337915.2:p.Leu160Pro | |
| ENST00000354593.6:c.72-1308T>C | ENSP00000346607.2:n.72-1308T>C | |
| ENST00000480043.1:n.376T>C | ||
| NM_001202855.2:c.479T>C | NP_001189784.1:p.Leu160Pro | |
| NM_017460.5:c.479T>C | NP_059488.2:p.Leu160Pro | |
| XM_011515841.1:c.479T>C | XP_011514143.1:p.Leu160Pro | |
| XM_011515842.1:c.479T>C | XP_011514144.1:p.Leu160Pro | |
| NM_017460.6:c.479T>C MANE Select | NP_059488.2:p.Leu160Pro | |
| NM_001202855.3:c.479T>C | NP_001189784.1:p.Leu160Pro |