Linked Data
dbSNP Id:
rs772920976
ExAC:
10:112361661 G / A
gnomAD v2:
10-112361661-G-A
gnomAD v3:
10-110601903-G-A
gnomAD v4:
10-110601903-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601903G>A , CM000672.2:g.110601903G>A | GRCh38 |
| NC_000010.10:g.112361661G>A , CM000672.1:g.112361661G>A | GRCh37 |
| NC_000010.9:g.112351651G>A | NCBI36 |
| NG_012217.1:g.39213G>A , LRG_774:g.39213G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5125+19G>A | ||
| ENST00000685743.1:n.2600+19G>A | ||
| ENST00000686057.1:n.1243+19G>A | ||
| ENST00000689321.1:n.1855+19G>A | ||
| ENST00000689986.1:n.681+19G>A | ||
| ENST00000361804.5:c.2892+19G>A MANE Select | ENSP00000354720.5:n.2892+19G>A | |
| ENST00000361804.4:c.2892+19G>A | ENSP00000354720.4:n.2892+19G>A | |
| NM_005445.3:c.2892+19G>A , LRG_774t1:c.2892+19G>A | NP_005436.1:n.2892+19G>A | |
| NM_005445.4:c.2892+19G>A MANE Select | NP_005436.1:n.2892+19G>A |