Linked Data
dbSNP Id:
rs777470722
ExAC:
1:15772055 G / A
gnomAD v2:
1-15772055-G-A
gnomAD v3:
1-15445560-G-A
gnomAD v4:
1-15445560-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445560G>A , CM000663.2:g.15445560G>A | GRCh38 |
| NC_000001.10:g.15772055G>A , CM000663.1:g.15772055G>A | GRCh37 |
| NC_000001.9:g.15644642G>A | NCBI36 |
| NG_009253.1:g.12118G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.640-37G>A MANE Select | ENSP00000365116.4:n.640-37G>A | |
| ENST00000375943.6:c.*94-37G>A | ENSP00000365110.2:n.*94-37G>A | |
| ENST00000375949.4:c.640-37G>A | ENSP00000365116.4:n.640-37G>A | |
| ENST00000483406.1:n.404-37G>A | ||
| NM_007272.2:c.640-37G>A | NP_009203.2:n.640-37G>A | |
| XM_011540550.1:c.494-37G>A | XP_011538852.1:n.494-37G>A | |
| NM_007272.3:c.640-37G>A MANE Select | NP_009203.2:n.640-37G>A |