Linked Data
dbSNP Id:
rs1212823964
gnomAD v2:
12-9268540-T-C
gnomAD v3:
12-9115944-T-C
gnomAD v4:
12-9115944-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9115944T>C , CM000674.2:g.9115944T>C | GRCh38 |
| NC_000012.11:g.9268540T>C , CM000674.1:g.9268540T>C | GRCh37 |
| NC_000012.10:g.9159807T>C | NCBI36 |
| NG_011717.1:g.5019A>G | |
| NG_011717.2:g.5019A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318602.11:c.-95A>G (A2M) | ENSP00000323929.7:n.-95A>G | |
| ENST00000404455.2:c.-17-78A>G (A2M) | ENSP00000385710.2:n.-17-78A>G | |
| ENST00000467091.1:n.118A>G (A2M) | ||
| ENST00000497324.1:n.74A>G (A2M) | ||
| NM_000014.4:c.-95A>G (A2M) | NP_000005.2:n.-95A>G | |
| NM_000014.5:c.-95A>G (A2M) | NP_000005.2:n.-95A>G | |
| NM_001347423.1:c.-17-78A>G (A2M) | NP_001334352.1:n.-17-78A>G | |
| NM_001347424.1:c.-548A>G (A2M) | NP_001334353.1:n.-548A>G | |
| NM_001347425.1:c.-385A>G (A2M) | NP_001334354.1:n.-385A>G | |
| XM_006719056.3:c.-95A>G (A2M) | XP_006719119.1:n.-95A>G | |
| XM_017018683.1:c.*34-9430T>C (KLRG1) | XP_016874172.1:n.*34-9430T>C | |
| XM_017018684.1:c.*34-19142T>C (KLRG1) | XP_016874173.1:n.*34-19142T>C | |
| XM_017018685.1:c.*33+57778T>C (KLRG1) | XP_016874174.1:n.*33+57778T>C | |
| NM_001347423.2:c.-17-78A>G (A2M) | NP_001334352.2:n.-17-78A>G |