Linked Data
dbSNP Id:
rs2071375
gnomAD v2:
2-113535438-C-T
gnomAD v3:
2-112777861-C-T
gnomAD v4:
2-112777861-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112777861C>T , CM000664.2:g.112777861C>T | GRCh38 |
| NC_000002.11:g.113535438C>T , CM000664.1:g.113535438C>T | GRCh37 |
| NC_000002.10:g.113251909C>T | NCBI36 |
| NG_008850.1:g.12534G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263339.4:c.615+126G>A MANE Select | ENSP00000263339.3:n.615+126G>A | |
| ENST00000263339.3:c.615+126G>A | ENSP00000263339.3:n.615+126G>A | |
| NM_000575.3:c.615+126G>A | NP_000566.3:n.615+126G>A | |
| NM_000575.4:c.615+126G>A | NP_000566.3:n.615+126G>A | |
| NM_000575.5:c.615+126G>A MANE Select | NP_000566.3:n.615+126G>A | |
| NM_001371554.1:c.615+126G>A | NP_001358483.1:n.615+126G>A |