Linked Data
dbSNP Id:
rs1182074731
gnomAD v2:
2-175665017-T-A
gnomAD v3:
2-174800289-T-A
gnomAD v4:
2-174800289-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174800289T>A , CM000664.2:g.174800289T>A | GRCh38 |
| NC_000002.11:g.175665017T>A , CM000664.1:g.175665017T>A | GRCh37 |
| NC_000002.10:g.175373263T>A | NCBI36 |
| NG_012642.1:g.210154A>T | |
| NG_012642.2:g.210154A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295497.13:c.834-2A>T | ENSP00000295497.7:n.834-2A>T | |
| ENST00000444394.7:c.963-2A>T | ENSP00000411911.2:n.963-2A>T | |
| ENST00000295497.12:c.834-2A>T | ENSP00000295497.7:n.834-2A>T | |
| ENST00000409089.7:c.585-2A>T | ENSP00000386322.3:n.585-2A>T | |
| ENST00000409900.9:c.1209-2A>T MANE Select | ENSP00000386741.4:n.1209-2A>T | |
| ENST00000413882.6:c.663-2A>T | ENSP00000410496.2:n.663-2A>T | |
| ENST00000443238.6:c.687-2A>T | ENSP00000409798.2:n.687-2A>T | |
| ENST00000444394.6:c.963-2A>T | ENSP00000411911.2:n.963-2A>T | |
| ENST00000488080.6:n.852-2A>T | ||
| ENST00000650731.1:c.534-2A>T | ENSP00000499146.1:n.534-2A>T | |
| ENST00000650938.1:c.595-2A>T | ||
| ENST00000651246.1:c.801-2A>T | ENSP00000498484.1:n.801-2A>T | |
| ENST00000651501.1:c.*656-2A>T | ENSP00000498894.1:n.*656-2A>T | |
| ENST00000651717.1:c.*485-2A>T | ENSP00000499124.1:n.*485-2A>T | |
| ENST00000652036.1:c.885-2A>T | ENSP00000499139.1:n.885-2A>T | |
| ENST00000295497.11:c.834-2A>T | ENSP00000295497.7:n.834-2A>T | |
| ENST00000409156.7:c.1131-2A>T | ENSP00000386470.3:n.1131-2A>T | |
| ENST00000409597.5:c.657-2A>T | ENSP00000386469.1:n.657-2A>T | |
| ENST00000409900.7:c.1209-2A>T | ENSP00000386741.3:n.1209-2A>T | |
| ENST00000488080.5:n.1060-2A>T | ||
| ENST00000492964.1:n.352-2A>T | ||
| NM_001025201.3:c.1131-2A>T | NP_001020372.2:n.1131-2A>T | |
| NM_001206602.1:c.834-2A>T | NP_001193531.1:n.834-2A>T | |
| NM_001822.5:c.1209-2A>T | NP_001813.1:n.1209-2A>T | |
| NR_038133.1:n.1075-2A>T | ||
| NM_001025201.4:c.1131-2A>T | NP_001020372.2:n.1131-2A>T | |
| NM_001206602.2:c.834-2A>T | NP_001193531.1:n.834-2A>T | |
| NM_001371513.1:c.1209-2A>T | NP_001358442.1:n.1209-2A>T | |
| NM_001371514.1:c.1260-2A>T | NP_001358443.1:n.1260-2A>T | |
| NM_001822.7:c.1209-2A>T MANE Select | NP_001813.1:n.1209-2A>T | |
| NR_038133.2:n.1077-2A>T |