Linked Data
dbSNP Id:
rs10268763
gnomAD v2:
7-138841804-G-A
gnomAD v3:
7-139157058-G-A
gnomAD v4:
7-139157058-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.139157058G>A , CM000669.2:g.139157058G>A | GRCh38 |
| NC_000007.13:g.138841804G>A , CM000669.1:g.138841804G>A | GRCh37 |
| NC_000007.12:g.138492344G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343187.8:c.625-3890G>A | ENSP00000339135.4:n.625-3890G>A | |
| ENST00000430935.5:c.718-3890G>A | ENSP00000410655.1:n.718-3890G>A | |
| ENST00000464848.5:c.718-3890G>A MANE Select | ENSP00000419279.1:n.718-3890G>A | |
| ENST00000474035.6:c.718-3890G>A | ENSP00000443253.1:n.718-3890G>A | |
| ENST00000476296.1:c.*471-3890G>A | ENSP00000419639.1:n.*471-3890G>A | |
| ENST00000478836.6:c.400-3890G>A | ENSP00000419178.2:n.400-3890G>A | |
| ENST00000481482.5:n.796-3890G>A | ||
| ENST00000495038.5:c.400-8074G>A | ENSP00000418788.1:n.400-8074G>A | |
| NM_001144920.2:c.718-3890G>A | NP_001138392.1:n.718-3890G>A | |
| NM_001144923.2:c.625-3890G>A | NP_001138395.1:n.625-3890G>A | |
| NM_001287512.1:c.400-8074G>A | NP_001274441.1:n.400-8074G>A | |
| NM_001287513.1:c.403-3890G>A | NP_001274442.1:n.403-3890G>A | |
| NM_024926.3:c.718-3890G>A | NP_079202.2:n.718-3890G>A | |
| XM_005250608.3:c.298-3890G>A | XP_005250665.1:n.298-3890G>A | |
| XM_006716135.2:c.400-3890G>A | XP_006716198.1:n.400-3890G>A | |
| XM_011516584.1:c.718-3890G>A | XP_011514886.1:n.718-3890G>A | |
| NM_001318333.1:c.298-3890G>A | NP_001305262.1:n.298-3890G>A | |
| NM_001321740.1:c.718-3890G>A | NP_001308669.1:n.718-3890G>A | |
| NM_001321741.1:c.400-3890G>A | NP_001308670.1:n.400-3890G>A | |
| NM_001321742.1:c.718-3890G>A | NP_001308671.1:n.718-3890G>A | |
| NM_024926.4:c.718-3890G>A MANE Select | NP_079202.2:n.718-3890G>A | |
| NM_001144923.3:c.625-3890G>A | NP_001138395.1:n.625-3890G>A | |
| NM_001287512.2:c.400-8074G>A | NP_001274441.1:n.400-8074G>A | |
| NM_001287513.2:c.403-3890G>A | NP_001274442.1:n.403-3890G>A | |
| NM_001318333.2:c.298-3890G>A | NP_001305262.1:n.298-3890G>A | |
| NM_001321740.2:c.718-3890G>A | NP_001308669.1:n.718-3890G>A | |
| NM_001321741.2:c.400-3890G>A | NP_001308670.1:n.400-3890G>A | |
| NM_001144920.3:c.718-3890G>A | NP_001138392.1:n.718-3890G>A | |
| NM_001321742.2:c.718-3890G>A | NP_001308671.1:n.718-3890G>A |