Linked Data
dbSNP Id:
rs758529438
ExAC:
4:6304105 G / A
gnomAD v2:
4-6304105-G-A
gnomAD v3:
4-6302378-G-A
gnomAD v4:
4-6302378-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302378G>A , CM000666.2:g.6302378G>A | GRCh38 |
| NC_000004.11:g.6304105G>A , CM000666.1:g.6304105G>A | GRCh37 |
| NC_000004.10:g.6355006G>A | NCBI36 |
| NG_011700.1:g.37529G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2619G>A | ENSP00000507852.1:p.Val873= | |
| ENST00000683395.1:c.2560G>A | ||
| ENST00000684087.1:c.2583G>A | ENSP00000506978.1:p.Val861= | |
| ENST00000506362.2:c.2334G>A | ENSP00000424103.2:p.Val778= | |
| ENST00000673991.1:c.2619G>A | ENSP00000501033.1:p.Val873= | |
| ENST00000226760.5:c.2583G>A MANE Select | ENSP00000226760.1:p.Val861= | |
| ENST00000503569.5:c.2583G>A | ENSP00000423337.1:p.Val861= | |
| ENST00000507765.1:n.2768G>A | ||
| NM_001145853.1:c.2583G>A | NP_001139325.1:p.Val861= | |
| NM_006005.3:c.2583G>A MANE Select | NP_005996.2:p.Val861= | |
| XM_017008586.1:c.2592G>A | XP_016864075.1:p.Val864= |