Linked Data
dbSNP Id:
rs1430888787
gnomAD v2:
19-41854017-C-A
gnomAD v3:
19-41348112-C-A
gnomAD v4:
19-41348112-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41348112C>A , CM000681.2:g.41348112C>A | GRCh38 |
| NC_000019.9:g.41854017C>A , CM000681.1:g.41854017C>A | GRCh37 |
| NC_000019.8:g.46545857C>A | NCBI36 |
| NG_013364.1:g.10815G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000221930.6:c.516+183G>T MANE Select | ENSP00000221930.4:n.516+183G>T | |
| ENST00000600196.2:c.516+183G>T | ENSP00000504008.1:n.516+183G>T | |
| ENST00000677934.1:c.516+183G>T | ENSP00000504769.1:n.516+183G>T | |
| ENST00000221930.5:c.516+183G>T | ENSP00000221930.4:n.516+183G>T | |
| ENST00000597453.1:n.47+183G>T | ||
| NM_000660.5:c.516+183G>T | NP_000651.3:n.516+183G>T | |
| XM_011527242.1:c.516+183G>T | XP_011525544.1:n.516+183G>T | |
| NM_000660.6:c.516+183G>T | NP_000651.3:n.516+183G>T | |
| XM_011527242.2:c.516+183G>T | XP_011525544.1:n.516+183G>T | |
| NM_000660.7:c.516+183G>T MANE Select | NP_000651.3:n.516+183G>T |