Linked Data
dbSNP Id:
rs767874329
ExAC:
2:86257312 G / A
gnomAD v2:
2-86257312-G-A
gnomAD v4:
2-86030189-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86030189G>A , CM000664.2:g.86030189G>A | GRCh38 |
| NC_000002.11:g.86257312G>A , CM000664.1:g.86257312G>A | GRCh37 |
| NC_000002.10:g.86110823G>A | NCBI36 |
| NG_050742.2:g.80967C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263857.11:c.4779+7C>T MANE Select | ENSP00000263857.6:n.4779+7C>T | |
| ENST00000263857.10:c.4779+7C>T | ENSP00000263857.6:n.4779+7C>T | |
| ENST00000409681.1:c.4596+7C>T | ENSP00000386300.1:n.4596+7C>T | |
| NM_015425.3:c.4779+7C>T | NP_056240.2:n.4779+7C>T | |
| XM_006711983.2:c.4455+7C>T | XP_006712046.1:n.4455+7C>T | |
| NM_015425.5:c.4779+7C>T | NP_056240.2:n.4779+7C>T | |
| NM_015425.6:c.4779+7C>T MANE Select | NP_056240.2:n.4779+7C>T |