Linked Data
dbSNP Id:
rs753338920
ExAC:
8:38003672 G / A
gnomAD v2:
8-38003672-G-A
gnomAD v4:
8-38146154-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146154G>A , CM000670.2:g.38146154G>A | GRCh38 |
| NC_000008.10:g.38003672G>A , CM000670.1:g.38003672G>A | GRCh37 |
| NC_000008.9:g.38122829G>A | NCBI36 |
| NG_011827.1:g.9929C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.466-7C>T MANE Select | ENSP00000276449.3:n.466-7C>T | |
| ENST00000276449.8:c.466-7C>T | ENSP00000276449.3:n.466-7C>T | |
| ENST00000520114.1:n.953-7C>T | ||
| ENST00000522050.1:c.402-7C>T | ||
| NM_000349.2:c.466-7C>T | NP_000340.2:n.466-7C>T | |
| XM_006716392.1:c.466-7C>T | XP_006716455.1:n.466-7C>T | |
| NM_000349.3:c.466-7C>T MANE Select | NP_000340.2:n.466-7C>T |