Linked Data
dbSNP Id:
rs770439539
ExAC:
12:53045842 C / G
gnomAD v2:
12-53045842-C-G
gnomAD v4:
12-52652058-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52652058C>G , CM000674.2:g.52652058C>G | GRCh38 |
| NC_000012.11:g.53045842C>G , CM000674.1:g.53045842C>G | GRCh37 |
| NC_000012.10:g.51332109C>G | NCBI36 |
| NG_008296.1:g.5118G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.85G>C MANE Select | ENSP00000310861.3:p.Val29Leu | |
| ENST00000309680.3:c.85G>C | ENSP00000310861.3:p.Val29Leu | |
| NM_000423.2:c.85G>C | NP_000414.2:p.Val29Leu | |
| NM_000423.3:c.85G>C MANE Select | NP_000414.2:p.Val29Leu |