Linked Data
dbSNP Id:
rs11572223
gnomAD v2:
1-60385743-G-A
gnomAD v3:
1-59920071-G-A
gnomAD v4:
1-59920071-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.59920071G>A , CM000663.2:g.59920071G>A | GRCh38 |
| NC_000001.10:g.60385743G>A , CM000663.1:g.60385743G>A | GRCh37 |
| NC_000001.9:g.60158331G>A | NCBI36 |
| NG_007931.1:g.11681C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371204.4:c.211-3971C>T MANE Select | ENSP00000360247.3:n.211-3971C>T | |
| ENST00000468257.2:c.211-3971C>T | ENSP00000497807.1:n.211-3971C>T | |
| ENST00000469406.6:c.227-3971C>T | ENSP00000497732.1:n.227-3971C>T | |
| ENST00000371204.3:c.211-3971C>T | ENSP00000360247.3:n.211-3971C>T | |
| ENST00000466095.5:n.226-3971C>T | ||
| ENST00000468257.1:n.236-3971C>T | ||
| ENST00000469406.5:n.226-3971C>T | ||
| NM_000775.2:c.211-3971C>T | NP_000766.2:n.211-3971C>T | |
| XR_246240.2:n.238-3971C>T | ||
| XR_946558.1:n.238-3971C>T | ||
| NM_000775.3:c.211-3971C>T | NP_000766.2:n.211-3971C>T | |
| NR_134981.1:n.263-3971C>T | ||
| NR_134982.1:n.263-3971C>T | ||
| NM_000775.4:c.211-3971C>T MANE Select | NP_000766.2:n.211-3971C>T | |
| NR_134981.2:n.238-3971C>T | ||
| NR_134982.2:n.238-3971C>T |