Linked Data
dbSNP Id:
rs746889791
ExAC:
2:86257280 C / T
gnomAD v2:
2-86257280-C-T
gnomAD v4:
2-86030157-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86030157C>T , CM000664.2:g.86030157C>T | GRCh38 |
| NC_000002.11:g.86257280C>T , CM000664.1:g.86257280C>T | GRCh37 |
| NC_000002.10:g.86110791C>T | NCBI36 |
| NG_050742.2:g.80999G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263857.11:c.4779+39G>A MANE Select | ENSP00000263857.6:n.4779+39G>A | |
| ENST00000263857.10:c.4779+39G>A | ENSP00000263857.6:n.4779+39G>A | |
| ENST00000409681.1:c.4596+39G>A | ENSP00000386300.1:n.4596+39G>A | |
| NM_015425.3:c.4779+39G>A | NP_056240.2:n.4779+39G>A | |
| XM_006711983.2:c.4455+39G>A | XP_006712046.1:n.4455+39G>A | |
| NM_015425.5:c.4779+39G>A | NP_056240.2:n.4779+39G>A | |
| NM_015425.6:c.4779+39G>A MANE Select | NP_056240.2:n.4779+39G>A |