Linked Data
ClinVar Variation Id:
2292
dbSNP Id:
rs121434379
ExAC:
9:135172296 A / C
gnomAD v2:
9-135172296-A-C
gnomAD v3:
9-132296909-A-C
gnomAD v4:
9-132296909-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132296909A>C , CM000671.2:g.132296909A>C | GRCh38 |
| NC_000009.11:g.135172296A>C , CM000671.1:g.135172296A>C | GRCh37 |
| NC_000009.10:g.134162117A>C | NCBI36 |
| NG_007946.1:g.63077T>G , LRG_268:g.63077T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224140.6:c.5927T>G MANE Select | ENSP00000224140.5:p.Leu1976Arg | |
| ENST00000224140.5:c.5927T>G | ENSP00000224140.5:p.Leu1976Arg | |
| ENST00000436441.5:c.653T>G | ENSP00000409143.1:p.Leu218Arg | |
| NM_015046.5:c.5927T>G , LRG_268t1:c.5927T>G | NP_055861.3:p.Leu1976Arg | |
| XM_005272171.1:c.5927T>G | XP_005272228.1:p.Leu1976Arg | |
| XM_005272172.1:c.5927T>G | XP_005272229.1:p.Leu1976Arg | |
| XM_005272173.1:c.5927T>G | XP_005272230.1:p.Leu1976Arg | |
| XM_011518404.1:c.5927T>G | XP_011516706.1:p.Leu1976Arg | |
| XM_011518405.1:c.5927T>G | XP_011516707.1:p.Leu1976Arg | |
| XM_011518406.1:c.5927T>G | XP_011516708.1:p.Leu1976Arg | |
| XM_011518407.1:c.5927T>G | XP_011516709.1:p.Leu1976Arg | |
| XM_011518408.1:c.5927T>G | XP_011516710.1:p.Leu1976Arg | |
| XR_929739.1:n.5843T>G | ||
| NM_001351527.1:c.5927T>G | NP_001338456.1:p.Leu1976Arg | |
| NM_001351528.1:c.5927T>G | NP_001338457.1:p.Leu1976Arg | |
| NM_015046.6:c.5927T>G | NP_055861.3:p.Leu1976Arg | |
| XM_005272172.3:c.5927T>G | XP_005272229.1:p.Leu1976Arg | |
| XM_005272173.3:c.5927T>G | XP_005272230.1:p.Leu1976Arg | |
| XM_011518404.3:c.5927T>G | XP_011516706.1:p.Leu1976Arg | |
| XM_011518405.3:c.5927T>G | XP_011516707.1:p.Leu1976Arg | |
| XM_011518406.2:c.5927T>G | XP_011516708.1:p.Leu1976Arg | |
| XM_011518408.3:c.5927T>G | XP_011516710.1:p.Leu1976Arg | |
| XM_017014496.1:c.380T>G | XP_016869985.1:p.Leu127Arg | |
| XR_001746251.1:n.5482T>G | ||
| XR_929739.2:n.5843T>G | ||
| NM_015046.7:c.5927T>G MANE Select | NP_055861.3:p.Leu1976Arg | |
| NM_001351528.2:c.5927T>G | NP_001338457.1:p.Leu1976Arg | |
| NM_001351527.2:c.5927T>G | NP_001338456.1:p.Leu1976Arg |