Linked Data
dbSNP Id:
rs1555005726
gnomAD v2:
11-102713329-A-G
gnomAD v4:
11-102842598-A-G
MyVariant Identifiers:
chr11:g.102713329A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102842598A>G , CM000673.2:g.102842598A>G | GRCh38 |
| NC_000011.9:g.102713329A>G , CM000673.1:g.102713329A>G | GRCh37 |
| NC_000011.8:g.102218539A>G | NCBI36 |
| NG_012100.1:g.6014T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299855.10:c.351-19T>C MANE Select | ENSP00000299855.5:n.351-19T>C | |
| ENST00000299855.9:c.351-19T>C | ENSP00000299855.5:n.351-19T>C | |
| ENST00000524478.1:c.*193-19T>C | ENSP00000435255.1:n.*193-19T>C | |
| NM_002422.3:c.351-19T>C | NP_002413.1:n.351-19T>C | |
| NM_002422.4:c.351-19T>C | NP_002413.1:n.351-19T>C | |
| NM_002422.5:c.351-19T>C MANE Select | NP_002413.1:n.351-19T>C |