Linked Data
dbSNP Id:
rs1476971587
gnomAD v2:
14-51372154-T-G
gnomAD v3:
14-50905436-T-G
gnomAD v4:
14-50905436-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50905436T>G , CM000676.2:g.50905436T>G | GRCh38 |
| NC_000014.8:g.51372154T>G , CM000676.1:g.51372154T>G | GRCh37 |
| NC_000014.7:g.50441904T>G | NCBI36 |
| NG_012796.1:g.44095A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.2500A>C MANE Select | ENSP00000216392.7:p.Lys834Gln | |
| ENST00000216392.7:c.2500A>C | ENSP00000216392.7:p.Lys834Gln | |
| ENST00000532462.5:c.2379+2835A>C | ENSP00000431657.1:n.2379+2835A>C | |
| ENST00000544180.6:c.2398A>C | ENSP00000443787.1:p.Lys800Gln | |
| NM_001163940.1:c.2398A>C | NP_001157412.1:p.Lys800Gln | |
| NM_002863.4:c.2500A>C | NP_002854.3:p.Lys834Gln | |
| NM_002863.5:c.2500A>C MANE Select | NP_002854.3:p.Lys834Gln | |
| NM_001163940.2:c.2398A>C | NP_001157412.1:p.Lys800Gln |