Linked Data
dbSNP Id:
rs777598547
ExAC:
10:96540428 T / A
gnomAD v2:
10-96540428-T-A
gnomAD v4:
10-94780671-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780671T>A , CM000672.2:g.94780671T>A | GRCh38 |
| NC_000010.10:g.96540428T>A , CM000672.1:g.96540428T>A | GRCh37 |
| NC_000010.9:g.96530418T>A | NCBI36 |
| NG_008384.2:g.22966T>A | |
| NG_008384.3:g.22991T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.642+12T>A MANE Select | ENSP00000360372.3:n.642+12T>A | |
| ENST00000645461.1:n.1695+12T>A | ||
| ENST00000371321.7:c.642+12T>A | ENSP00000360372.3:n.642+12T>A | |
| ENST00000464755.1:c.1405+12T>A | ENSP00000483243.1:n.1405+12T>A | |
| NM_000769.2:c.642+12T>A | NP_000760.1:n.642+12T>A | |
| NM_000769.4:c.642+12T>A MANE Select | NP_000760.1:n.642+12T>A |