Linked Data
dbSNP Id:
rs146636009
ExAC:
9:93983201 G / C
gnomAD v2:
9-93983201-G-C
gnomAD v4:
9-91220919-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91220919G>C , CM000671.2:g.91220919G>C | GRCh38 |
| NC_000009.11:g.93983201G>C , CM000671.1:g.93983201G>C | GRCh37 |
| NC_000009.10:g.93023022G>C | NCBI36 |
| NG_008017.1:g.146006C>G , LRG_449:g.146006C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375731.9:c.729C>G MANE Select | ENSP00000364883.5:p.Leu243= | |
| ENST00000303617.5:c.642C>G | ENSP00000307334.5:p.Leu214= | |
| ENST00000375731.8:c.729C>G | ENSP00000364883.4:p.Leu243= | |
| ENST00000473695.1:n.1C>G | ||
| NM_001306190.1:c.642C>G | NP_001293119.1:p.Leu214= | |
| NM_001698.2:c.729C>G , LRG_449t1:c.729C>G | NP_001689.1:p.Leu243= | |
| XM_005252066.2:c.759C>G | XP_005252123.1:p.Leu253= | |
| XM_005252067.3:c.759C>G | XP_005252124.1:p.Leu253= | |
| XM_005252069.3:c.759C>G | XP_005252126.1:p.Leu253= | |
| XM_005252073.2:c.267C>G | XP_005252130.1:p.Leu89= | |
| XM_006717150.2:c.672C>G | XP_006717213.1:p.Leu224= | |
| XM_011518801.1:c.405C>G | XP_011517103.1:p.Leu135= | |
| XM_011518802.1:c.402C>G | XP_011517104.1:p.Leu134= | |
| NM_001351431.1:c.402C>G | NP_001338360.1:p.Leu134= | |
| NM_001351432.1:c.402C>G | NP_001338361.1:p.Leu134= | |
| NM_001351433.1:c.402C>G | NP_001338362.1:p.Leu134= | |
| XM_005252066.3:c.759C>G | XP_005252123.1:p.Leu253= | |
| XM_005252067.4:c.759C>G | XP_005252124.1:p.Leu253= | |
| XM_005252069.4:c.759C>G | XP_005252126.1:p.Leu253= | |
| XM_006717150.3:c.672C>G | XP_006717213.1:p.Leu224= | |
| XM_017014849.1:c.729C>G | XP_016870338.1:p.Leu243= | |
| XR_001746328.2:n.954C>G | ||
| XR_001746329.2:n.906C>G | ||
| NM_001698.3:c.729C>G MANE Select | NP_001689.1:p.Leu243= | |
| NM_001306190.2:c.642C>G | NP_001293119.1:p.Leu214= | |
| NM_001351431.2:c.402C>G | NP_001338360.1:p.Leu134= | |
| NM_001351432.2:c.402C>G | NP_001338361.1:p.Leu134= | |
| NM_001351433.2:c.402C>G | NP_001338362.1:p.Leu134= |