Linked Data
dbSNP Id:
rs1239890829
gnomAD v2:
12-9268722-A-T
gnomAD v3:
12-9116126-A-T
gnomAD v4:
12-9116126-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9116126A>T , CM000674.2:g.9116126A>T | GRCh38 |
| NC_000012.11:g.9268722A>T , CM000674.1:g.9268722A>T | GRCh37 |
| NC_000012.10:g.9159989A>T | NCBI36 |
| NG_011717.1:g.4837T>A | |
| NG_011717.2:g.4837T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318602.11:c.-277T>A (A2M) | ENSP00000323929.7:n.-277T>A | |
| ENST00000404455.2:c.-18+2T>A (A2M) | ENSP00000385710.2:n.-18+2T>A | |
| NM_000014.5:c.-277T>A (A2M) | NP_000005.2:n.-277T>A | |
| NM_001347423.1:c.-18+2T>A (A2M) | NP_001334352.1:n.-18+2T>A | |
| NM_001347424.1:c.-730T>A (A2M) | NP_001334353.1:n.-730T>A | |
| NM_001347425.1:c.-567T>A (A2M) | NP_001334354.1:n.-567T>A | |
| XM_017018683.1:c.*34-9248A>T (KLRG1) | XP_016874172.1:n.*34-9248A>T | |
| XM_017018684.1:c.*34-18960A>T (KLRG1) | XP_016874173.1:n.*34-18960A>T | |
| XM_017018685.1:c.*33+57960A>T (KLRG1) | XP_016874174.1:n.*33+57960A>T | |
| NM_001347423.2:c.-18+2T>A (A2M) | NP_001334352.2:n.-18+2T>A |