Linked Data
dbSNP Id:
rs12462428
gnomAD v2:
19-16694610-T-C
gnomAD v3:
19-16583799-T-C
gnomAD v4:
19-16583799-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16583799T>C , CM000681.2:g.16583799T>C | GRCh38 |
| NC_000019.9:g.16694610T>C , CM000681.1:g.16694610T>C | GRCh37 |
| NC_000019.8:g.16555610T>C | NCBI36 |
| NG_031959.2:g.49406A>G , LRG_422:g.49406A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263390.8:c.73-5390A>G MANE Select | ENSP00000263390.3:n.73-5390A>G | |
| ENST00000263390.7:c.73-5390A>G | ENSP00000263390.2:n.73-5390A>G | |
| ENST00000409035.1:c.97-5390A>G | ENSP00000386951.2:n.97-5390A>G | |
| ENST00000593459.5:c.116-5390A>G | ENSP00000470086.1:n.116-5390A>G | |
| ENST00000593962.5:n.353-5390A>G | ||
| ENST00000593991.5:c.441-5390A>G | ENSP00000472547.1:n.441-5390A>G | |
| ENST00000594509.5:c.373-5390A>G | ENSP00000471649.1:n.373-5390A>G | |
| ENST00000595505.5:c.*138-5390A>G | ENSP00000470469.1:n.*138-5390A>G | |
| ENST00000598492.5:c.-10+3605A>G | ENSP00000469434.1:n.-10+3605A>G | |
| ENST00000598608.1:c.439-5390A>G | ENSP00000471040.1:n.439-5390A>G | |
| ENST00000600060.1:c.73-5390A>G | ENSP00000472880.1:n.73-5390A>G | |
| ENST00000600705.1:c.*138-5390A>G | ENSP00000472877.1:n.*138-5390A>G | |
| ENST00000601478.1:c.-9-5390A>G | ENSP00000472706.1:n.-9-5390A>G | |
| ENST00000601636.5:c.*127-5390A>G | ENSP00000472751.1:n.*127-5390A>G | |
| ENST00000611692.4:c.73-5390A>G | ENSP00000484490.1:n.73-5390A>G | |
| NM_004831.3:c.73-5390A>G | NP_004822.2:n.73-5390A>G | |
| NM_004831.5:c.73-5390A>G MANE Select | NP_004822.2:n.73-5390A>G |