Linked Data
ClinVar Variation Id:
256021
dbSNP Id:
rs238406
ExAC:
19:45868309 T / G
gnomAD v2:
19-45868309-T-G
gnomAD v3:
19-45365051-T-G
gnomAD v4:
19-45365051-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45365051T>G , CM000681.2:g.45365051T>G | GRCh38 |
| NC_000019.9:g.45868309T>G , CM000681.1:g.45868309T>G | GRCh37 |
| NC_000019.8:g.50560149T>G | NCBI36 |
| NG_007067.2:g.10537A>C , LRG_461:g.10537A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000391944.8:c.468A>C | ENSP00000375808.4:p.Arg156= | |
| ENST00000682414.1:c.468A>C | ENSP00000507019.1:p.Arg156= | |
| ENST00000682508.1:n.497A>C | ||
| ENST00000684218.1:c.468A>C | ENSP00000507804.1:p.Arg156= | |
| ENST00000684407.1:c.345A>C | ENSP00000507775.1:p.Arg115= | |
| ENST00000684458.1:c.468A>C | ENSP00000508260.1:p.Arg156= | |
| ENST00000391945.10:c.468A>C MANE Select | ENSP00000375809.4:p.Arg156= | |
| ENST00000586131.6:c.396A>C | ENSP00000464887.1:p.Arg132= | |
| ENST00000646507.1:n.565A>C | ||
| ENST00000391941.6:c.396A>C | ENSP00000375805.2:p.Arg132= | |
| ENST00000391944.7:c.361-504A>C | ENSP00000375808.3:n.361-504A>C | |
| ENST00000391945.8:c.468A>C | ENSP00000375809.3:p.Arg156= | |
| ENST00000485403.6:c.396A>C | ENSP00000431229.2:p.Arg132= | |
| ENST00000586131.5:c.396A>C | ENSP00000464887.1:p.Arg132= | |
| ENST00000586441.1:n.460A>C | ||
| ENST00000586737.5:n.356-720A>C | ||
| ENST00000586856.1:c.318A>C | ENSP00000466998.1:p.Arg106= | |
| ENST00000591309.5:c.361-720A>C | ENSP00000465207.1:n.361-720A>C | |
| NM_000400.3:c.468A>C , LRG_461t1:c.468A>C | NP_000391.1:p.Arg156= | |
| NM_001130867.1:c.396A>C | NP_001124339.1:p.Arg132= | |
| XM_011526611.1:c.390A>C | XP_011524913.1:p.Arg130= | |
| XR_935763.1:n.515A>C | ||
| XM_011526611.2:c.390A>C | XP_011524913.1:p.Arg130= | |
| XM_017026467.1:c.345A>C | XP_016881956.1:p.Arg115= | |
| XR_001753633.2:n.515A>C | ||
| XR_001753634.2:n.515A>C | ||
| NM_000400.4:c.468A>C MANE Select | NP_000391.1:p.Arg156= | |
| NM_001130867.2:c.396A>C | NP_001124339.1:p.Arg132= |