Linked Data
ClinVar Variation Id:
1277750
ClinVar RCV Id:
RCV001692907
dbSNP Id:
rs6276
gnomAD v2:
11-113281397-C-T
gnomAD v3:
11-113410675-C-T
gnomAD v4:
11-113410675-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113410675C>T , CM000673.2:g.113410675C>T | GRCh38 |
| NC_000011.9:g.113281397C>T , CM000673.1:g.113281397C>T | GRCh37 |
| NC_000011.8:g.112786607C>T | NCBI36 |
| NG_008841.1:g.69605G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000362072.8:c.*52G>A MANE Select | ENSP00000354859.3:n.*52G>A | |
| ENST00000346454.7:c.*52G>A | ENSP00000278597.5:n.*52G>A | |
| ENST00000362072.7:c.*52G>A | ENSP00000354859.3:n.*52G>A | |
| ENST00000538967.5:c.1390G>A | ENSP00000438215.1:n.1390G>A | |
| ENST00000542968.5:c.*52G>A | ENSP00000442172.1:n.*52G>A | |
| ENST00000544518.5:c.*52G>A | ENSP00000441068.1:n.*52G>A | |
| NM_000795.3:c.*52G>A | NP_000786.1:n.*52G>A | |
| NM_016574.3:c.*52G>A | NP_057658.2:n.*52G>A | |
| XM_017017296.2:c.*52G>A | XP_016872785.1:n.*52G>A | |
| NM_000795.4:c.*52G>A MANE Select | NP_000786.1:n.*52G>A | |
| NM_016574.4:c.*52G>A | NP_057658.2:n.*52G>A |