Linked Data
dbSNP Id:
rs190025325
gnomAD v2:
1-94486714-C-T
gnomAD v3:
1-94021158-C-T
gnomAD v4:
1-94021158-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021158C>T , CM000663.2:g.94021158C>T | GRCh38 |
| NC_000001.10:g.94486714C>T , CM000663.1:g.94486714C>T | GRCh37 |
| NC_000001.9:g.94259302C>T | NCBI36 |
| NG_009073.1:g.104992G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5018+82G>A MANE Select | ENSP00000359245.3:n.5018+82G>A | |
| ENST00000370225.3:c.5018+82G>A | ENSP00000359245.3:n.5018+82G>A | |
| ENST00000460514.1:n.512+82G>A | ||
| ENST00000470771.1:n.128+82G>A | ||
| ENST00000536513.5:c.1394+82G>A | ENSP00000439707.2:n.1394+82G>A | |
| NM_000350.2:c.5018+82G>A | NP_000341.2:n.5018+82G>A | |
| NM_000350.3:c.5018+82G>A MANE Select | NP_000341.2:n.5018+82G>A |