Linked Data
dbSNP Id:
rs541131471
gnomAD v2:
8-38003724-C-A
gnomAD v3:
8-38146206-C-A
gnomAD v4:
8-38146206-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146206C>A , CM000670.2:g.38146206C>A | GRCh38 |
| NC_000008.10:g.38003724C>A , CM000670.1:g.38003724C>A | GRCh37 |
| NC_000008.9:g.38122881C>A | NCBI36 |
| NG_011827.1:g.9877G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.466-59G>T MANE Select | ENSP00000276449.3:n.466-59G>T | |
| ENST00000276449.8:c.466-59G>T | ENSP00000276449.3:n.466-59G>T | |
| ENST00000520114.1:n.953-59G>T | ||
| ENST00000522050.1:c.402-59G>T | ||
| NM_000349.2:c.466-59G>T | NP_000340.2:n.466-59G>T | |
| XM_006716392.1:c.466-59G>T | XP_006716455.1:n.466-59G>T | |
| NM_000349.3:c.466-59G>T MANE Select | NP_000340.2:n.466-59G>T |