Linked Data
dbSNP Id:
rs762692752
ExAC:
11:5248275 G / T
gnomAD v2:
11-5248275-G-T
gnomAD v4:
11-5227045-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227045G>T , CM000673.2:g.5227045G>T | GRCh38 |
| NC_000011.9:g.5248275G>T , CM000673.1:g.5248275G>T | GRCh37 |
| NC_000011.8:g.5204851G>T | NCBI36 |
| NG_000007.3:g.70571C>A | |
| NG_059281.1:g.5027C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.-24C>A | ENSP00000494175.1:n.-24C>A | |
| ENST00000335295.4:c.-24C>A MANE Select | ENSP00000333994.3:n.-24C>A | |
| ENST00000380315.2:c.-18-6C>A | ENSP00000369671.2:n.-18-6C>A | |
| ENST00000485743.1:n.28C>A | ||
| ENST00000633227.1:c.-24C>A | ENSP00000488004.1:n.-24C>A | |
| NM_000518.4:c.-24C>A | NP_000509.1:n.-24C>A | |
| NM_000518.5:c.-24C>A MANE Select | NP_000509.1:n.-24C>A |