Linked Data
dbSNP Id:
rs758007869
ExAC:
8:27358500 T / G
gnomAD v2:
8-27358500-T-G
gnomAD v4:
8-27500983-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27500983T>G , CM000670.2:g.27500983T>G | GRCh38 |
| NC_000008.10:g.27358500T>G , CM000670.1:g.27358500T>G | GRCh37 |
| NC_000008.9:g.27414417T>G | NCBI36 |
| NG_012064.1:g.14856T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521400.6:c.159T>G MANE Select | ENSP00000430269.1:p.Leu53= | |
| ENST00000380476.7:c.-1T>G | ENSP00000369843.3:n.-1T>G | |
| ENST00000517536.5:c.159T>G | ENSP00000428875.1:p.Leu53= | |
| ENST00000518328.5:c.159T>G | ENSP00000430779.1:p.Leu53= | |
| ENST00000518379.5:c.159T>G | ENSP00000427956.1:p.Leu53= | |
| ENST00000520623.5:n.243T>G | ||
| ENST00000520666.1:n.171T>G | ||
| ENST00000521400.5:c.159T>G | ENSP00000430269.1:p.Leu53= | |
| ENST00000521684.1:c.158T>G | ||
| ENST00000521780.5:c.-12-2621T>G | ENSP00000430302.1:n.-12-2621T>G | |
| ENST00000523827.1:n.382T>G | ||
| NM_001256482.1:c.-1T>G | NP_001243411.1:n.-1T>G | |
| NM_001256483.1:c.-12-2621T>G | NP_001243412.1:n.-12-2621T>G | |
| NM_001256484.1:c.-1T>G | NP_001243413.1:n.-1T>G | |
| NM_001979.5:c.159T>G | NP_001970.2:p.Leu53= | |
| XM_017013199.1:c.159T>G | XP_016868688.1:p.Leu53= | |
| XM_017013200.1:c.159T>G | XP_016868689.1:p.Leu53= | |
| XR_001745491.1:n.217T>G | ||
| NM_001256482.2:c.-1T>G | NP_001243411.1:n.-1T>G | |
| NM_001256483.2:c.-12-2621T>G | NP_001243412.1:n.-12-2621T>G | |
| NM_001256484.2:c.-1T>G | NP_001243413.1:n.-1T>G | |
| NM_001979.6:c.159T>G MANE Select | NP_001970.2:p.Leu53= |