Linked Data
dbSNP Id:
rs11889798
gnomAD v2:
2-228481419-C-T
gnomAD v3:
2-227616703-C-T
gnomAD v4:
2-227616703-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227616703C>T , CM000664.2:g.227616703C>T | GRCh38 |
| NC_000002.11:g.228481419C>T , CM000664.1:g.228481419C>T | GRCh37 |
| NC_000002.10:g.228189663C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264387.8:c.191-5047G>A | ENSP00000264387.4:n.191-5047G>A | |
| ENST00000409066.1:c.191-3669G>A | ENSP00000387149.1:n.191-3669G>A | |
| NM_001162483.1:c.191-3669G>A | NP_001155955.1:n.191-3669G>A | |
| NM_020161.3:c.191-5047G>A | NP_064546.3:n.191-5047G>A | |
| NM_001162483.2:c.191-3669G>A | NP_001155955.1:n.191-3669G>A | |
| NM_020161.4:c.191-5047G>A | NP_064546.3:n.191-5047G>A | |
| NR_172911.1:n.426-3669G>A | ||
| NR_172912.1:n.426-5047G>A |