Linked Data
dbSNP Id:
rs1234477160
gnomAD v2:
12-9268568-G-A
gnomAD v3:
12-9115972-G-A
gnomAD v4:
12-9115972-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9115972G>A , CM000674.2:g.9115972G>A | GRCh38 |
| NC_000012.11:g.9268568G>A , CM000674.1:g.9268568G>A | GRCh37 |
| NC_000012.10:g.9159835G>A | NCBI36 |
| NG_011717.1:g.4991C>T | |
| NG_011717.2:g.4991C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318602.11:c.-123C>T (A2M) | ENSP00000323929.7:n.-123C>T | |
| ENST00000404455.2:c.-17-106C>T (A2M) | ENSP00000385710.2:n.-17-106C>T | |
| ENST00000467091.1:n.90C>T (A2M) | ||
| ENST00000497324.1:n.46C>T (A2M) | ||
| NM_000014.5:c.-123C>T (A2M) | NP_000005.2:n.-123C>T | |
| NM_001347423.1:c.-17-106C>T (A2M) | NP_001334352.1:n.-17-106C>T | |
| NM_001347424.1:c.-576C>T (A2M) | NP_001334353.1:n.-576C>T | |
| NM_001347425.1:c.-413C>T (A2M) | NP_001334354.1:n.-413C>T | |
| XM_017018683.1:c.*34-9402G>A (KLRG1) | XP_016874172.1:n.*34-9402G>A | |
| XM_017018684.1:c.*34-19114G>A (KLRG1) | XP_016874173.1:n.*34-19114G>A | |
| XM_017018685.1:c.*33+57806G>A (KLRG1) | XP_016874174.1:n.*33+57806G>A | |
| NM_001347423.2:c.-17-106C>T (A2M) | NP_001334352.2:n.-17-106C>T |