Linked Data
dbSNP Id:
rs11254363
gnomAD v2:
10-17130693-A-G
gnomAD v3:
10-17088694-A-G
gnomAD v4:
10-17088694-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17088694A>G , CM000672.2:g.17088694A>G | GRCh38 |
| NC_000010.10:g.17130693A>G , CM000672.1:g.17130693A>G | GRCh37 |
| NC_000010.9:g.17170699A>G | NCBI36 |
| NG_008967.1:g.46124T>C , LRG_540:g.46124T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377833.10:c.1766-349T>C MANE Select | ENSP00000367064.4:n.1766-349T>C | |
| ENST00000377833.8:c.1766-349T>C | ENSP00000367064.4:n.1766-349T>C | |
| NM_001081.3:c.1766-349T>C , LRG_540t1:c.1766-349T>C | NP_001072.2:n.1766-349T>C | |
| XM_011519708.1:c.1766-349T>C | XP_011518010.1:n.1766-349T>C | |
| XM_011519708.2:c.1766-349T>C | XP_011518010.1:n.1766-349T>C | |
| NM_001081.4:c.1766-349T>C MANE Select | NP_001072.2:n.1766-349T>C |