Linked Data
dbSNP Id:
rs1473213000
gnomAD v2:
8-18257670-G-C
gnomAD v3:
8-18400160-G-C
gnomAD v4:
8-18400160-G-C
COSMIC:
COSM5649948
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400160G>C , CM000670.2:g.18400160G>C | GRCh38 |
| NC_000008.10:g.18257670G>C , CM000670.1:g.18257670G>C | GRCh37 |
| NC_000008.9:g.18301950G>C | NCBI36 |
| NG_012246.1:g.13916G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.157G>C MANE Select | ENSP00000286479.3:p.Glu53Gln | |
| ENST00000286479.3:c.157G>C | ENSP00000286479.3:p.Glu53Gln | |
| ENST00000520116.1:c.-57-177G>C | ENSP00000428416.1:n.-57-177G>C | |
| NM_000015.2:c.157G>C | NP_000006.2:p.Glu53Gln | |
| XM_011544358.1:c.157G>C | XP_011542660.1:p.Glu53Gln | |
| XM_017012938.1:c.157G>C | XP_016868427.1:p.Glu53Gln | |
| NM_000015.3:c.157G>C MANE Select | NP_000006.2:p.Glu53Gln |