Linked Data
dbSNP Id:
rs1431802905
gnomAD v2:
8-16850500-T-C
gnomAD v3:
8-16992991-T-C
gnomAD v4:
8-16992991-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16992991T>C , CM000670.2:g.16992991T>C | GRCh38 |
| NC_000008.10:g.16850500T>C , CM000670.1:g.16850500T>C | GRCh37 |
| NC_000008.9:g.16894871T>C | NCBI36 |
| NG_015978.1:g.14175A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*81A>G MANE Select | ENSP00000180166.5:n.*81A>G | |
| ENST00000180166.5:c.*81A>G | ENSP00000180166.5:n.*81A>G | |
| ENST00000519941.1:c.421A>G | ||
| NM_019851.2:c.*81A>G | NP_062825.1:n.*81A>G | |
| NM_019851.3:c.*81A>G MANE Select | NP_062825.1:n.*81A>G |