Linked Data
ClinVar Variation Id:
753822
ClinVar RCV Id:
RCV000931095
dbSNP Id:
rs776904725
ExAC:
11:5248124 G / T
gnomAD v2:
11-5248124-G-T
gnomAD v3:
11-5226894-G-T
gnomAD v4:
11-5226894-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226894G>T , CM000673.2:g.5226894G>T | GRCh38 |
| NC_000011.9:g.5248124G>T , CM000673.1:g.5248124G>T | GRCh37 |
| NC_000011.8:g.5204700G>T | NCBI36 |
| NG_000007.3:g.70722C>A | |
| NG_059281.1:g.5178C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.92+36C>A | ENSP00000494175.1:n.92+36C>A | |
| ENST00000335295.4:c.92+36C>A MANE Select | ENSP00000333994.3:n.92+36C>A | |
| ENST00000380315.2:c.92+36C>A | ENSP00000369671.2:n.92+36C>A | |
| ENST00000485743.1:n.143+36C>A | ||
| ENST00000633227.1:c.76+52C>A | ENSP00000488004.1:n.76+52C>A | |
| NM_000518.4:c.92+36C>A | NP_000509.1:n.92+36C>A | |
| NM_000518.5:c.92+36C>A MANE Select | NP_000509.1:n.92+36C>A |