Linked Data
dbSNP Id:
rs7657186
gnomAD v2:
4-186994039-G-A
gnomAD v3:
4-186072885-G-A
gnomAD v4:
4-186072885-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186072885G>A , CM000666.2:g.186072885G>A | GRCh38 |
| NC_000004.11:g.186994039G>A , CM000666.1:g.186994039G>A | GRCh37 |
| NC_000004.10:g.187231033G>A | NCBI36 |
| NG_007278.1:g.8731G>A , LRG_117:g.8731G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698351.1:c.-8+3637G>A | ENSP00000513674.1:n.-8+3637G>A | |
| ENST00000698352.1:c.-8+3637G>A | ENSP00000513675.1:n.-8+3637G>A | |
| ENST00000296795.8:c.-8+3637G>A MANE Select | ENSP00000296795.3:n.-8+3637G>A | |
| ENST00000296795.7:c.-8+3637G>A | ENSP00000296795.2:n.-8+3637G>A | |
| ENST00000513189.1:c.-8+3637G>A | ENSP00000423386.1:n.-8+3637G>A | |
| NM_003265.2:c.-8+3637G>A , LRG_117t1:c.-8+3637G>A | NP_003256.1:n.-8+3637G>A | |
| NM_003265.3:c.-8+3637G>A MANE Select | NP_003256.1:n.-8+3637G>A |