Linked Data
dbSNP Id:
rs2657880
gnomAD v2:
12-56863770-G-C
gnomAD v3:
12-56469986-G-C
gnomAD v4:
12-56469986-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56469986G>C , CM000674.2:g.56469986G>C | GRCh38 |
| NC_000012.11:g.56863770G>C , CM000674.1:g.56863770G>C | GRCh37 |
| NC_000012.10:g.55150037G>C | NCBI36 |
| NG_021397.2:g.4181C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338146.7:c.*409G>C MANE Select | ENSP00000338034.5:n.*409G>C | |
| ENST00000648304.1:c.183-16231C>G | ENSP00000497190.1:n.183-16231C>G | |
| ENST00000338146.6:c.*409G>C | ENSP00000338034.5:n.*409G>C | |
| ENST00000629545.1:c.179G>C | ENSP00000487087.1:p.Trp60Ser | |
| NM_207344.3:c.*409G>C | NP_997227.1:n.*409G>C | |
| NM_207344.4:c.*409G>C MANE Select | NP_997227.1:n.*409G>C |