Linked Data
dbSNP Id:
rs10838527
gnomAD v2:
11-45903194-A-G
gnomAD v3:
11-45881643-A-G
gnomAD v4:
11-45881643-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45881643A>G , CM000673.2:g.45881643A>G | GRCh38 |
| NC_000011.9:g.45903194A>G , CM000673.1:g.45903194A>G | GRCh37 |
| NC_000011.8:g.45859770A>G | NCBI36 |
| NG_012153.1:g.993A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000616080.2:c.*732A>G MANE Select | ENSP00000484684.1:n.*732A>G | |
| ENST00000443527.6:c.*732A>G | ENSP00000406751.2:n.*732A>G | |
| ENST00000616623.4:c.*732A>G | ENSP00000478187.1:n.*732A>G | |
| NM_001127457.2:c.*732A>G | NP_001120929.1:n.*732A>G | |
| NM_021117.3:c.*732A>G | NP_066940.2:n.*732A>G | |
| NM_021117.4:c.*732A>G | NP_066940.3:n.*732A>G | |
| NM_021117.5:c.*732A>G MANE Select | NP_066940.3:n.*732A>G | |
| NM_001127457.3:c.*732A>G | NP_001120929.1:n.*732A>G |