Linked Data
dbSNP Id:
rs11210278
gnomAD v2:
1-41949972-C-T
gnomAD v3:
1-41484301-C-T
gnomAD v4:
1-41484301-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.41484301C>T , CM000663.2:g.41484301C>T | GRCh38 |
| NC_000001.10:g.41949972C>T , CM000663.1:g.41949972C>T | GRCh37 |
| NC_000001.9:g.41722559C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372587.5:c.65-98G>A MANE Select | ENSP00000361668.4:n.65-98G>A | |
| ENST00000372587.4:c.65-98G>A | ENSP00000361668.4:n.65-98G>A | |
| ENST00000490783.5:n.137-189G>A | ||
| NM_001302269.1:c.65-98G>A | NP_001289198.1:n.65-98G>A | |
| NM_001956.4:c.65-98G>A | NP_001947.1:n.65-98G>A | |
| NR_126098.1:n.147-189G>A | ||
| XM_017000512.1:c.149-98G>A | XP_016856001.1:n.149-98G>A | |
| XR_001737015.1:n.163-98G>A | ||
| NM_001956.5:c.65-98G>A MANE Select | NP_001947.1:n.65-98G>A | |
| NM_001302269.2:c.65-98G>A | NP_001289198.1:n.65-98G>A | |
| NR_126098.2:n.147-189G>A |