Linked Data
dbSNP Id:
rs897777729
gnomAD v2:
12-9268679-T-A
gnomAD v3:
12-9116083-T-A
gnomAD v4:
12-9116083-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9116083T>A , CM000674.2:g.9116083T>A | GRCh38 |
| NC_000012.11:g.9268679T>A , CM000674.1:g.9268679T>A | GRCh37 |
| NC_000012.10:g.9159946T>A | NCBI36 |
| NG_011717.1:g.4880A>T | |
| NG_011717.2:g.4880A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318602.11:c.-234A>T (A2M) | ENSP00000323929.7:n.-234A>T | |
| ENST00000404455.2:c.-18+45A>T (A2M) | ENSP00000385710.2:n.-18+45A>T | |
| NM_000014.5:c.-234A>T (A2M) | NP_000005.2:n.-234A>T | |
| NM_001347423.1:c.-18+45A>T (A2M) | NP_001334352.1:n.-18+45A>T | |
| NM_001347424.1:c.-687A>T (A2M) | NP_001334353.1:n.-687A>T | |
| NM_001347425.1:c.-524A>T (A2M) | NP_001334354.1:n.-524A>T | |
| XM_017018683.1:c.*34-9291T>A (KLRG1) | XP_016874172.1:n.*34-9291T>A | |
| XM_017018684.1:c.*34-19003T>A (KLRG1) | XP_016874173.1:n.*34-19003T>A | |
| XM_017018685.1:c.*33+57917T>A (KLRG1) | XP_016874174.1:n.*33+57917T>A | |
| NM_001347423.2:c.-18+45A>T (A2M) | NP_001334352.2:n.-18+45A>T |