Linked Data
dbSNP Id:
rs775578755
ExAC:
8:38003505 A / G
gnomAD v2:
8-38003505-A-G
gnomAD v4:
8-38145987-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38145987A>G , CM000670.2:g.38145987A>G | GRCh38 |
| NC_000008.10:g.38003505A>G , CM000670.1:g.38003505A>G | GRCh37 |
| NC_000008.9:g.38122662A>G | NCBI36 |
| NG_011827.1:g.10096T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276449.9:c.626T>C MANE Select | ENSP00000276449.3:p.Met209Thr | |
| ENST00000276449.8:c.626T>C | ENSP00000276449.3:p.Met209Thr | |
| ENST00000520114.1:n.1113T>C | ||
| ENST00000522050.1:c.562T>C | ||
| NM_000349.2:c.626T>C | NP_000340.2:p.Met209Thr | |
| XM_006716392.1:c.626T>C | XP_006716455.1:p.Met209Thr | |
| NM_000349.3:c.626T>C MANE Select | NP_000340.2:p.Met209Thr |