Linked Data
dbSNP Id:
rs16912210
gnomAD v2:
11-5263853-A-G
gnomAD v3:
11-5242623-A-G
gnomAD v4:
11-5242623-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5242623A>G , CM000673.2:g.5242623A>G | GRCh38 |
| NC_000011.9:g.5263853A>G , CM000673.1:g.5263853A>G | GRCh37 |
| NC_000011.8:g.5220429A>G | NCBI36 |
| NG_000007.3:g.54993T>C | |
| NG_063112.2:g.6035T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000454892.2:n.308-376T>C (HBBP1) | ||
| ENST00000643122.1:c.-29+827T>C (HBD) | ENSP00000494708.1:n.-29+827T>C | |
| ENST00000433329.1:n.312-376T>C (HBBP1) | ||
| ENST00000454892.1:n.162-376T>C (HBBP1) | ||
| NR_001589.1:n.367-376T>C (HBBP1) |