Linked Data
dbSNP Id:
rs1289482385
gnomAD v2:
6-50786683-G-C
gnomAD v3:
6-50818970-G-C
gnomAD v4:
6-50818970-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.50818970G>C , CM000668.2:g.50818970G>C | GRCh38 |
| NC_000006.11:g.50786683G>C , CM000668.1:g.50786683G>C | GRCh37 |
| NC_000006.10:g.50894642G>C | NCBI36 |
| NG_008438.1:g.5245G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393655.4:c.79G>C MANE Select | ENSP00000377265.2:p.Glu27Gln | |
| ENST00000344788.7:c.46G>C | ENSP00000342252.3:p.Glu16Gln | |
| ENST00000393655.3:c.79G>C | ENSP00000377265.2:p.Glu27Gln | |
| NM_003221.3:c.79G>C | NP_003212.2:p.Glu27Gln | |
| XM_006715176.2:c.79G>C | XP_006715239.1:p.Glu27Gln | |
| XM_011514834.1:c.79G>C | XP_011513136.1:p.Glu27Gln | |
| XM_011514835.1:c.79G>C | XP_011513137.1:p.Glu27Gln | |
| XM_011514836.1:c.79G>C | XP_011513138.1:p.Glu27Gln | |
| XM_011514837.1:c.79G>C | XP_011513139.1:p.Glu27Gln | |
| XM_011514837.2:c.79G>C | XP_011513139.1:p.Glu27Gln | |
| XM_017011233.1:c.171G>C | XP_016866722.1:p.Met57Ile | |
| XM_017011234.1:c.135G>C | XP_016866723.1:p.Met45Ile | |
| XM_017011235.2:c.79G>C | XP_016866724.1:p.Glu27Gln | |
| NM_003221.4:c.79G>C MANE Select | NP_003212.2:p.Glu27Gln |