Linked Data
dbSNP Id:
rs1340012232
gnomAD v2:
12-103311073-T-C
gnomAD v3:
12-102917295-T-C
gnomAD v4:
12-102917295-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917295T>C , CM000674.2:g.102917295T>C | GRCh38 |
| NC_000012.11:g.103311073T>C , CM000674.1:g.103311073T>C | GRCh37 |
| NC_000012.10:g.101835203T>C | NCBI36 |
| NG_008690.1:g.5308A>G | |
| NG_008690.2:g.46116A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546708.5:n.493-70A>G | ||
| ENST00000546844.1:c.-95-70A>G | ENSP00000446658.1:n.-95-70A>G | |
| ENST00000547319.1:n.217-70A>G | ||
| ENST00000551337.5:c.-95-70A>G | ENSP00000447620.1:n.-95-70A>G | |
| ENST00000553106.5:c.-165A>G | ENSP00000448059.1:n.-165A>G | |
| ENST00000635500.1:n.29-4397A>G | ||
| NM_000277.1:c.-165A>G | NP_000268.1:n.-165A>G | |
| NM_000277.2:c.-165A>G | NP_000268.1:n.-165A>G | |
| NM_001354304.1:c.-95-70A>G | NP_001341233.1:n.-95-70A>G | |
| NM_001354304.2:c.-95-70A>G | NP_001341233.1:n.-95-70A>G |