Linked Data
dbSNP Id:
rs1279895119
gnomAD v2:
6-33990256-G-C
gnomAD v3:
6-34022479-G-C
gnomAD v4:
6-34022479-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34022479G>C , CM000668.2:g.34022479G>C | GRCh38 |
| NC_000006.11:g.33990256G>C , CM000668.1:g.33990256G>C | GRCh37 |
| NC_000006.10:g.34098234G>C | NCBI36 |
| NG_029677.3:g.138144C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000538487.7:c.*342C>G MANE Select | ENSP00000440556.1:n.*342C>G | |
| ENST00000374177.7:c.*342C>G | ENSP00000363292.3:n.*342C>G | |
| ENST00000374181.8:c.*342C>G | ENSP00000363296.4:n.*342C>G | |
| ENST00000535756.5:c.*342C>G | ENSP00000437925.1:n.*342C>G | |
| ENST00000538487.6:c.*342C>G | ENSP00000440556.1:n.*342C>G | |
| ENST00000544773.6:c.*342C>G | ENSP00000437730.1:n.*342C>G | |
| ENST00000545715.5:n.3130C>G | ||
| ENST00000609222.5:c.*342C>G | ENSP00000477466.1:n.*342C>G | |
| ENST00000609860.5:n.3556C>G | ||
| NM_000841.3:c.*342C>G | NP_000832.1:n.*342C>G | |
| NM_001256809.2:c.*342C>G | NP_001243738.1:n.*342C>G | |
| NM_001256811.2:c.*342C>G | NP_001243740.1:n.*342C>G | |
| NM_001256812.2:c.*342C>G | NP_001243741.1:n.*342C>G | |
| NM_001256813.2:c.*342C>G | NP_001243742.1:n.*342C>G | |
| NM_001282847.1:c.*342C>G | NP_001269776.1:n.*342C>G | |
| XM_011514531.1:c.*342C>G | XP_011512833.1:n.*342C>G | |
| XM_017010790.2:c.*342C>G | XP_016866279.1:n.*342C>G | |
| XM_017010791.2:c.*342C>G | XP_016866280.1:n.*342C>G | |
| XM_017010792.1:c.*342C>G | XP_016866281.1:n.*342C>G | |
| XM_017010793.2:c.*342C>G | XP_016866282.1:n.*342C>G | |
| XR_001743363.1:n.4070C>G | ||
| XR_001743364.2:n.3686C>G | ||
| NM_000841.4:c.*342C>G MANE Select | NP_000832.1:n.*342C>G | |
| NM_001256813.3:c.*342C>G | NP_001243742.1:n.*342C>G | |
| NM_001282847.2:c.*342C>G | NP_001269776.1:n.*342C>G | |
| NM_001256809.3:c.*342C>G | NP_001243738.1:n.*342C>G | |
| NM_001256811.3:c.*342C>G | NP_001243740.1:n.*342C>G |