Linked Data
dbSNP Id:
rs12327666
gnomAD v2:
19-14139921-G-A
gnomAD v3:
19-14029109-G-A
gnomAD v4:
19-14029109-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.14029109G>A , CM000681.2:g.14029109G>A | GRCh38 |
| NC_000019.9:g.14139921G>A , CM000681.1:g.14139921G>A | GRCh37 |
| NC_000019.8:g.14000921G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000431365.3:c.190+715G>A MANE Select | ENSP00000397415.2:n.190+715G>A | |
| ENST00000431365.2:c.190+715G>A | ENSP00000397415.2:n.190+715G>A | |
| ENST00000585987.1:c.190+715G>A | ENSP00000467130.1:n.190+715G>A | |
| NM_001311197.1:c.190+715G>A | NP_001298126.1:n.190+715G>A | |
| NM_080864.2:c.190+715G>A | NP_543140.1:n.190+715G>A | |
| NM_080864.3:c.190+715G>A | NP_543140.1:n.190+715G>A | |
| NM_080864.4:c.190+715G>A MANE Select | NP_543140.1:n.190+715G>A | |
| NM_001311197.2:c.190+715G>A | NP_001298126.1:n.190+715G>A |