Linked Data
dbSNP Id:
rs16844846
gnomAD v2:
1-225592927-T-G
gnomAD v3:
1-225405225-T-G
gnomAD v4:
1-225405225-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225405225T>G , CM000663.2:g.225405225T>G | GRCh38 |
| NC_000001.10:g.225592927T>G , CM000663.1:g.225592927T>G | GRCh37 |
| NC_000001.9:g.223659550T>G | NCBI36 |
| NG_008099.1:g.28593A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272163.9:c.1484-519A>C MANE Select | ENSP00000272163.4:n.1484-519A>C | |
| ENST00000651341.1:c.*650-519A>C | ENSP00000499114.1:n.*650-519A>C | |
| ENST00000272163.8:c.1484-519A>C | ENSP00000272163.4:n.1484-519A>C | |
| ENST00000338179.6:c.1484-519A>C | ENSP00000339883.2:n.1484-519A>C | |
| NM_002296.3:c.1484-519A>C | NP_002287.2:n.1484-519A>C | |
| NM_194442.2:c.1484-519A>C | NP_919424.1:n.1484-519A>C | |
| XM_005273125.2:c.1358-519A>C | XP_005273182.1:n.1358-519A>C | |
| XM_011544185.1:c.1484-519A>C | XP_011542487.1:n.1484-519A>C | |
| XM_011544186.1:c.1484-699A>C | XP_011542488.1:n.1484-699A>C | |
| XM_005273125.3:c.1358-519A>C | XP_005273182.1:n.1358-519A>C | |
| XM_011544185.3:c.1484-519A>C | XP_011542487.1:n.1484-519A>C | |
| XR_001737168.2:n.1507-519A>C | ||
| NM_002296.4:c.1484-519A>C MANE Select | NP_002287.2:n.1484-519A>C | |
| NM_194442.3:c.1484-519A>C | NP_919424.1:n.1484-519A>C |