Linked Data
dbSNP Id:
rs11545076
gnomAD v2:
8-63951451-A-C
gnomAD v3:
8-63038892-A-C
gnomAD v4:
8-63038892-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63038892A>C , CM000670.2:g.63038892A>C | GRCh38 |
| NC_000008.10:g.63951451A>C , CM000670.1:g.63951451A>C | GRCh37 |
| NC_000008.9:g.64114005A>C | NCBI36 |
| NG_028126.1:g.5160T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000677327.1:n.516T>G | ||
| ENST00000679326.1:c.-124T>G | ENSP00000504262.1:n.-124T>G | |
| ENST00000260118.6:c.-124T>G | ENSP00000260118.6:n.-124T>G | |
| NM_003878.2:c.-124T>G | NP_003869.1:n.-124T>G | |
| XM_011517623.1:c.-124T>G | XP_011515925.1:n.-124T>G |