Linked Data
dbSNP Id:
rs121909291
ExAC:
2:74689459 C / T
gnomAD v2:
2-74689459-C-T
gnomAD v4:
2-74462332-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74462332C>T , CM000664.2:g.74462332C>T | GRCh38 |
| NC_000002.11:g.74689459C>T , CM000664.1:g.74689459C>T | GRCh37 |
| NC_000002.10:g.74542967C>T | NCBI36 |
| NG_008922.1:g.8079G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690565.1:c.1457G>A | ENSP00000510501.1:p.Arg486Lys | |
| ENST00000691308.1:c.829-152G>A | ENSP00000509583.1:n.829-152G>A | |
| ENST00000448666.7:c.1457G>A MANE Select | ENSP00000410992.3:p.Arg486Lys | |
| ENST00000452063.7:c.1139G>A | ENSP00000388201.2:p.Arg380Lys | |
| ENST00000462443.2:c.632G>A | ENSP00000497265.1:p.Arg211Lys | |
| ENST00000647723.1:c.1400G>A | ||
| ENST00000647753.1:c.*750G>A | ENSP00000497318.1:n.*750G>A | |
| ENST00000647771.1:c.*945G>A | ENSP00000496788.1:n.*945G>A | |
| ENST00000647915.1:c.*750G>A | ENSP00000498123.1:n.*750G>A | |
| ENST00000648768.1:n.1714G>A | ||
| ENST00000648810.1:c.632G>A | ENSP00000496949.1:p.Arg211Lys | |
| ENST00000649075.1:c.*385G>A | ENSP00000497836.1:n.*385G>A | |
| ENST00000649601.1:c.*637G>A | ENSP00000496796.1:n.*637G>A | |
| ENST00000649777.1:n.1666G>A | ||
| ENST00000649854.1:c.1090G>A | ||
| ENST00000650523.1:c.1232G>A | ENSP00000497143.1:p.Arg411Lys | |
| ENST00000233616.8:c.1457G>A | ENSP00000233616.4:p.Arg486Lys | |
| ENST00000409065.5:c.*637G>A | ENSP00000386493.1:n.*637G>A | |
| ENST00000448666.5:c.1139G>A | ENSP00000410992.1:p.Arg380Lys | |
| ENST00000452063.6:c.1139G>A | ENSP00000388201.2:p.Arg380Lys | |
| ENST00000462189.1:n.1138G>A | ||
| NM_001146158.1:c.1139G>A | NP_001139630.1:p.Arg380Lys | |
| NM_006302.2:c.1457G>A | NP_006293.2:p.Arg486Lys | |
| NM_006302.3:c.1457G>A MANE Select | NP_006293.2:p.Arg486Lys | |
| NM_001146158.2:c.1139G>A | NP_001139630.1:p.Arg380Lys |