Linked Data
dbSNP Id:
rs1021593889
gnomAD v2:
12-52305860-A-C
gnomAD v3:
12-51912076-A-C
gnomAD v4:
12-51912076-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51912076A>C , CM000674.2:g.51912076A>C | GRCh38 |
| NC_000012.11:g.52305860A>C , CM000674.1:g.52305860A>C | GRCh37 |
| NC_000012.10:g.50592127A>C | NCBI36 |
| NG_009549.1:g.9659A>C , LRG_543:g.9659A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551576.6:c.-5-394A>C | ENSP00000455848.2:n.-5-394A>C | |
| ENST00000552678.2:c.-5-394A>C | ENSP00000457394.2:n.-5-394A>C | |
| ENST00000388922.9:c.-5-394A>C MANE Select | ENSP00000373574.4:n.-5-394A>C | |
| ENST00000388922.8:c.-5-394A>C | ENSP00000373574.4:n.-5-394A>C | |
| ENST00000551576.5:c.-5-394A>C | ENSP00000455848.1:n.-5-394A>C | |
| NM_000020.2:c.-5-394A>C , LRG_543t1:c.-5-394A>C | NP_000011.2:n.-5-394A>C | |
| XM_005269235.2:c.-5-394A>C | XP_005269292.1:n.-5-394A>C | |
| NM_000020.3:c.-5-394A>C MANE Select | NP_000011.2:n.-5-394A>C |