Linked Data
ClinVar Variation Id:
253273
dbSNP Id:
rs572314014
ExAC:
16:46727099 G / A
gnomAD v2:
16-46727099-G-A
gnomAD v3:
16-46693187-G-A
gnomAD v4:
16-46693187-G-A
PubMed:
PMID:22333897
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.46693187G>A , CM000678.2:g.46693187G>A | GRCh38 |
| NC_000016.9:g.46727099G>A , CM000678.1:g.46727099G>A | GRCh37 |
| NC_000016.8:g.45284600G>A | NCBI36 |
| NG_028241.1:g.8542G>A | |
| NG_029970.1:g.1046C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000219097.7:c.449+5G>A MANE Select | ENSP00000219097.2:n.449+5G>A | |
| ENST00000219097.6:c.449+5G>A | ENSP00000219097.2:n.449+5G>A | |
| ENST00000563306.5:n.532+5G>A | ||
| ENST00000563599.5:c.*271+5G>A | ENSP00000454299.1:n.*271+5G>A | |
| ENST00000566860.1:c.302+5G>A | ENSP00000456981.1:n.302+5G>A | |
| ENST00000568364.6:c.449+5G>A | ENSP00000457282.2:n.449+5G>A | |
| ENST00000569239.5:n.501G>A | ||
| ENST00000570260.2:n.448+5G>A | ||
| NM_014321.3:c.449+5G>A | NP_055136.1:n.449+5G>A | |
| NR_037620.1:n.568+5G>A | ||
| XM_011522978.1:c.449+5G>A | XP_011521280.1:n.449+5G>A | |
| XM_011522978.3:c.449+5G>A | XP_011521280.1:n.449+5G>A | |
| NM_014321.4:c.449+5G>A MANE Select | NP_055136.1:n.449+5G>A | |
| NR_037620.2:n.555+5G>A |