Linked Data
dbSNP Id:
rs1463378119
gnomAD v2:
7-87229503-C-A
gnomAD v3:
7-87600187-C-A
gnomAD v4:
7-87600187-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87600187C>A , CM000669.2:g.87600187C>A | GRCh38 |
| NC_000007.13:g.87229503C>A , CM000669.1:g.87229503C>A | GRCh37 |
| NC_000007.12:g.87067439C>A | NCBI36 |
| NG_011513.1:g.118062G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.-3G>T | ENSP00000265724.3:n.-3G>T | |
| ENST00000622132.5:c.-3G>T MANE Select | ENSP00000478255.1:n.-3G>T | |
| ENST00000265724.7:c.-3G>T | ENSP00000265724.3:n.-3G>T | |
| ENST00000416177.1:c.-3G>T | ENSP00000399419.1:n.-3G>T | |
| ENST00000543898.5:c.-3G>T | ENSP00000444095.1:n.-3G>T | |
| ENST00000622132.4:c.-3G>T | ENSP00000478255.1:n.-3G>T | |
| NM_000927.4:c.-3G>T | NP_000918.2:n.-3G>T | |
| NM_001348944.1:c.-3G>T | NP_001335873.1:n.-3G>T | |
| NM_001348945.1:c.208G>T | NP_001335874.1:p.Gly70Ter | |
| NM_001348946.1:c.-3G>T | NP_001335875.1:n.-3G>T | |
| NM_001348946.2:c.-3G>T MANE Select | NP_001335875.1:n.-3G>T | |
| NM_000927.5:c.-3G>T | NP_000918.2:n.-3G>T | |
| NM_001348944.2:c.-3G>T | NP_001335873.1:n.-3G>T | |
| NM_001348945.2:c.208G>T | NP_001335874.1:p.Gly70Ter |