Linked Data
dbSNP Id:
rs1721082
gnomAD v2:
8-16850132-A-T
gnomAD v3:
8-16992623-A-T
gnomAD v4:
8-16992623-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16992623A>T , CM000670.2:g.16992623A>T | GRCh38 |
| NC_000008.10:g.16850132A>T , CM000670.1:g.16850132A>T | GRCh37 |
| NC_000008.9:g.16894503A>T | NCBI36 |
| NG_015978.1:g.14543T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000180166.6:c.*449T>A MANE Select | ENSP00000180166.5:n.*449T>A | |
| ENST00000180166.5:c.*449T>A | ENSP00000180166.5:n.*449T>A | |
| NM_019851.3:c.*449T>A MANE Select | NP_062825.1:n.*449T>A |