Linked Data
dbSNP Id:
rs138534919
gnomAD v2:
10-16957847-C-A
gnomAD v3:
10-16915848-C-A
gnomAD v4:
10-16915848-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16915848C>A , CM000672.2:g.16915848C>A | GRCh38 |
| NC_000010.10:g.16957847C>A , CM000672.1:g.16957847C>A | GRCh37 |
| NC_000010.9:g.16997853C>A | NCBI36 |
| NG_008967.1:g.218970G>T , LRG_540:g.218970G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.7183G>T MANE Select | ENSP00000367064.4:p.Val2395Leu | |
| ENST00000377833.8:c.7183G>T | ENSP00000367064.4:p.Val2395Leu | |
| NM_001081.3:c.7183G>T , LRG_540t1:c.7183G>T | NP_001072.2:p.Val2395Leu | |
| XM_011519708.1:c.7183G>T | XP_011518010.1:p.Val2395Leu | |
| XM_011519709.1:c.3169G>T | XP_011518011.1:p.Val1057Leu | |
| XM_011519710.1:c.3145G>T | XP_011518012.1:p.Val1049Leu | |
| XM_011519711.1:c.3025G>T | XP_011518013.1:p.Val1009Leu | |
| XM_011519708.2:c.7183G>T | XP_011518010.1:p.Val2395Leu | |
| XM_011519709.2:c.3169G>T | XP_011518011.1:p.Val1057Leu | |
| XM_011519710.2:c.3145G>T | XP_011518012.1:p.Val1049Leu | |
| XM_011519711.3:c.3025G>T | XP_011518013.1:p.Val1009Leu | |
| NM_001081.4:c.7183G>T MANE Select | NP_001072.2:p.Val2395Leu |