Linked Data
dbSNP Id:
rs112137472
ExAC:
10:103531319 G / A
gnomAD v2:
10-103531319-G-A
gnomAD v4:
10-101771562-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.101771562G>A , CM000672.2:g.101771562G>A | GRCh38 |
| NC_000010.10:g.103531319G>A , CM000672.1:g.103531319G>A | GRCh37 |
| NC_000010.9:g.103521309G>A | NCBI36 |
| NG_007151.1:g.9509C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320185.7:c.345C>T MANE Select | ENSP00000321797.2:p.Leu115= | |
| ENST00000618991.5:c.33C>T | ENSP00000484420.1:p.Leu11= | |
| ENST00000344255.8:c.312C>T | ENSP00000340039.3:p.Leu104= | |
| ENST00000320185.6:c.345C>T | ENSP00000321797.2:p.Leu115= | |
| ENST00000344255.7:c.312C>T | ENSP00000340039.3:p.Leu104= | |
| ENST00000346714.7:c.225C>T | ENSP00000344306.3:p.Leu75= | |
| ENST00000347978.2:c.258C>T | ENSP00000321945.2:p.Leu86= | |
| ENST00000469792.6:c.*309C>T | ENSP00000473299.1:n.*309C>T | |
| ENST00000485728.1:n.221C>T | ||
| ENST00000618991.4:c.33C>T | ENSP00000484420.1:p.Leu11= | |
| NM_001206389.1:c.33C>T | NP_001193318.1:p.Leu11= | |
| NM_006119.4:c.258C>T | NP_006110.1:p.Leu86= | |
| NM_033163.3:c.345C>T | NP_149353.1:p.Leu115= | |
| NM_033164.3:c.312C>T | NP_149354.1:p.Leu104= | |
| NM_033165.3:c.225C>T | NP_149355.1:p.Leu75= | |
| XM_011539509.1:c.267C>T | XP_011537811.1:p.Leu89= | |
| XR_946251.1:n.343G>A | ||
| XR_946252.1:n.274G>A | ||
| XR_946253.1:n.272G>A | ||
| XR_946252.2:n.364G>A | ||
| XR_946253.2:n.362G>A | ||
| NM_006119.5:c.258C>T | NP_006110.1:p.Leu86= | |
| NM_033163.4:c.345C>T | NP_149353.1:p.Leu115= | |
| NM_033164.4:c.312C>T | NP_149354.1:p.Leu104= | |
| NM_033165.4:c.225C>T | NP_149355.1:p.Leu75= | |
| NM_001206389.2:c.33C>T | NP_001193318.1:p.Leu11= | |
| NM_006119.6:c.258C>T | NP_006110.1:p.Leu86= | |
| NM_033163.5:c.345C>T MANE Select | NP_149353.1:p.Leu115= | |
| NM_033165.5:c.225C>T | NP_149355.1:p.Leu75= |