Linked Data
dbSNP Id:
rs782722506
ExAC:
2:71058963 C / T
gnomAD v2:
2-71058963-C-T
gnomAD v4:
2-70831832-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70831832C>T , CM000664.2:g.70831832C>T | GRCh38 |
| NC_000002.11:g.71058963C>T , CM000664.1:g.71058963C>T | GRCh37 |
| NC_000002.10:g.70912471C>T | NCBI36 |
| NG_033914.1:g.8992G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410009.5:c.718-13G>A MANE Select | ENSP00000386378.3:n.718-13G>A | |
| ENST00000410009.4:c.718-13G>A | ENSP00000386378.3:n.718-13G>A | |
| NM_015717.4:c.718-13G>A | NP_056532.4:n.718-13G>A | |
| XM_011532874.1:c.718-13G>A | XP_011531176.1:n.718-13G>A | |
| XM_011532875.1:c.718-13G>A | XP_011531177.1:n.718-13G>A | |
| XM_011532876.1:c.718-13G>A | XP_011531178.1:n.718-13G>A | |
| XM_011532875.2:c.718-13G>A | XP_011531177.1:n.718-13G>A | |
| XM_011532876.2:c.718-13G>A | XP_011531178.1:n.718-13G>A | |
| NM_015717.5:c.718-13G>A MANE Select | NP_056532.4:n.718-13G>A |