Linked Data
dbSNP Id:
rs941874516
gnomAD v2:
11-5469545-G-A
gnomAD v3:
11-5448315-G-A
gnomAD v4:
11-5448315-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5448315G>A , CM000673.2:g.5448315G>A | GRCh38 |
| NC_000011.9:g.5469545G>A , CM000673.1:g.5469545G>A | GRCh37 |
| NC_000011.8:g.5426121G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292896.3:c.-267+57254C>T (HBE1) | ENSP00000292896.2:n.-267+57254C>T | |
| ENST00000380252.6:c.-74+57036C>T (HBG2) | ENSP00000369602.2:n.-74+57036C>T | |
| ENST00000380259.7:c.983-102416C>T | ENSP00000369609.3:n.983-102416C>T | |
| ENST00000415970.6:n.84+57254C>T (OR51B5) | ||
| ENST00000418729.1:n.84+57254C>T (OR51B5) | ||
| ENST00000420465.6:n.45+57254C>T (OR51B5) | ||
| ENST00000420726.6:n.45+57254C>T (OR51B5) | ||
| ENST00000380237.5:c.-310+57254C>T (HBE1) | ENSP00000369586.1:n.-310+57254C>T | |
| ENST00000380252.5:c.62+57036C>T (HBG2) | ENSP00000369602.1:n.62+57036C>T | |
| ENST00000380259.6:c.-564-102416C>T (HBG2) | ENSP00000369609.2:n.-564-102416C>T | |
| ENST00000396895.1:c.-267+57254C>T (HBE1) | ENSP00000380104.1:n.-267+57254C>T | |
| NM_001005567.2:c.-360+57254C>T (OR51B5) | NP_001005567.2:n.-360+57254C>T | |
| NR_038321.1:n.84+57254C>T (OR51B5) | ||
| XM_011520010.1:c.-360+2679C>T (OR51B5) | XP_011518312.1:n.-360+2679C>T | |
| NM_001005567.3:c.-360+57254C>T (OR51B5) | NP_001005567.2:n.-360+57254C>T | |
| NR_038321.2:n.84+57254C>T (OR51B5) |