Linked Data
dbSNP Id:
rs764136897
ExAC:
10:16957940 C / G
gnomAD v2:
10-16957940-C-G
gnomAD v4:
10-16915941-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16915941C>G , CM000672.2:g.16915941C>G | GRCh38 |
| NC_000010.10:g.16957940C>G , CM000672.1:g.16957940C>G | GRCh37 |
| NC_000010.9:g.16997946C>G | NCBI36 |
| NG_008967.1:g.218877G>C , LRG_540:g.218877G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.7090G>C MANE Select | ENSP00000367064.4:p.Glu2364Gln | |
| ENST00000377833.8:c.7090G>C | ENSP00000367064.4:p.Glu2364Gln | |
| NM_001081.3:c.7090G>C , LRG_540t1:c.7090G>C | NP_001072.2:p.Glu2364Gln | |
| XM_011519708.1:c.7090G>C | XP_011518010.1:p.Glu2364Gln | |
| XM_011519709.1:c.3076G>C | XP_011518011.1:p.Glu1026Gln | |
| XM_011519710.1:c.3052G>C | XP_011518012.1:p.Glu1018Gln | |
| XM_011519711.1:c.2932G>C | XP_011518013.1:p.Glu978Gln | |
| XM_011519708.2:c.7090G>C | XP_011518010.1:p.Glu2364Gln | |
| XM_011519709.2:c.3076G>C | XP_011518011.1:p.Glu1026Gln | |
| XM_011519710.2:c.3052G>C | XP_011518012.1:p.Glu1018Gln | |
| XM_011519711.3:c.2932G>C | XP_011518013.1:p.Glu978Gln | |
| NM_001081.4:c.7090G>C MANE Select | NP_001072.2:p.Glu2364Gln |