Linked Data
dbSNP Id:
rs1248197472
gnomAD v2:
6-25787932-G-T
gnomAD v3:
6-25787704-G-T
gnomAD v4:
6-25787704-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.25787704G>T , CM000668.2:g.25787704G>T | GRCh38 |
| NC_000006.11:g.25787932G>T , CM000668.1:g.25787932G>T | GRCh37 |
| NC_000006.10:g.25895911G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244527.10:c.*3-4486C>A MANE Select | ENSP00000244527.4:n.*3-4486C>A | |
| ENST00000244527.8:c.*3-4486C>A | ENSP00000244527.4:n.*3-4486C>A | |
| ENST00000377886.6:c.*658-4486C>A | ENSP00000367118.2:n.*658-4486C>A | |
| NM_005074.3:c.*3-4486C>A | NP_005065.2:n.*3-4486C>A | |
| XM_011514818.1:c.1179-4486C>A | XP_011513120.1:n.1179-4486C>A | |
| XM_011514818.2:c.1329-4486C>A | XP_011513120.2:n.1329-4486C>A | |
| XM_017011200.1:c.*3-4486C>A | XP_016866689.1:n.*3-4486C>A | |
| XM_017011201.2:c.*2+11079C>A | XP_016866690.1:n.*2+11079C>A | |
| NM_005074.5:c.*3-4486C>A MANE Select | NP_005065.2:n.*3-4486C>A |