Linked Data
dbSNP Id:
rs356219
gnomAD v2:
4-90637601-G-A
gnomAD v3:
4-89716450-G-A
gnomAD v4:
4-89716450-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.89716450G>A , CM000666.2:g.89716450G>A | GRCh38 |
| NC_000004.11:g.90637601G>A , CM000666.1:g.90637601G>A | GRCh37 |
| NC_000004.10:g.90856624G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673902.1:c.390+12744C>T | ENSP00000501102.1:n.390+12744C>T | |
| XR_938982.1:n.3490-3376G>A | ||
| XR_938984.1:n.2890-3376G>A | ||
| XR_938985.1:n.1922-3376G>A | ||
| XR_938986.1:n.556-3376G>A | ||
| XR_938987.1:n.810-3376G>A | ||
| XR_938988.1:n.676-3376G>A | ||
| XR_938989.1:n.332-3376G>A | ||
| XR_938990.1:n.420-3376G>A | ||
| XR_938991.1:n.435-3376G>A | ||
| XR_938993.1:n.437-3376G>A | ||
| XR_938994.1:n.901-3376G>A | ||
| XR_938995.1:n.735-3376G>A | ||
| XR_001741765.1:n.2908-3376G>A | ||
| XR_001741766.1:n.1680-3376G>A | ||
| XR_938982.2:n.3490-3376G>A | ||
| XR_938984.2:n.2912-3376G>A | ||
| XR_938985.2:n.1944-3376G>A | ||
| XR_938986.2:n.581-3376G>A | ||
| XR_938987.2:n.870-3376G>A | ||
| XR_938989.2:n.354-3376G>A |