Linked Data
dbSNP Id:
rs375516693
ExAC:
12:52827638 C / G
gnomAD v2:
12-52827638-C-G
gnomAD v3:
12-52433854-C-G
gnomAD v4:
12-52433854-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52433854C>G , CM000674.2:g.52433854C>G | GRCh38 |
| NC_000012.11:g.52827638C>G , CM000674.1:g.52827638C>G | GRCh37 |
| NC_000012.10:g.51113905C>G | NCBI36 |
| NG_008403.1:g.5473G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252245.6:c.451G>C MANE Select | ENSP00000252245.5:p.Glu151Gln | |
| ENST00000252245.5:c.451G>C | ENSP00000252245.5:p.Glu151Gln | |
| NM_004693.2:c.451G>C | NP_004684.2:p.Glu151Gln | |
| NM_004693.3:c.451G>C MANE Select | NP_004684.2:p.Glu151Gln |