Linked Data
dbSNP Id:
rs538188924
ExAC:
6:41129308 C / G
gnomAD v2:
6-41129308-C-G
gnomAD v3:
6-41161570-C-G
gnomAD v4:
6-41161570-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41161570C>G , CM000668.2:g.41161570C>G | GRCh38 |
| NC_000006.11:g.41129308C>G , CM000668.1:g.41129308C>G | GRCh37 |
| NC_000006.10:g.41237286C>G | NCBI36 |
| NG_011561.1:g.6615G>C , LRG_631:g.6615G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373113.8:c.84G>C MANE Select | ENSP00000362205.3:p.Ala28= | |
| ENST00000338469.3:c.84G>C | ENSP00000342651.4:p.Ala28= | |
| ENST00000373113.7:c.84G>C | ENSP00000362205.3:p.Ala28= | |
| ENST00000373122.8:c.84G>C | ENSP00000362214.4:p.Ala28= | |
| NM_001271821.1:c.84G>C | NP_001258750.1:p.Ala28= | |
| NM_018965.3:c.84G>C , LRG_631t1:c.84G>C | NP_061838.1:p.Ala28= | |
| XM_006715116.2:c.130+1473G>C | XP_006715179.1:n.130+1473G>C | |
| XR_926795.1:n.222+6007C>G | ||
| XR_926796.1:n.214+6007C>G | ||
| XR_926797.1:n.188+6007C>G | ||
| XR_926795.2:n.517+6007C>G | ||
| XR_926797.2:n.232+6007C>G | ||
| NM_001271821.2:c.84G>C | NP_001258750.1:p.Ala28= | |
| NM_018965.4:c.84G>C MANE Select | NP_061838.1:p.Ala28= |