Linked Data
dbSNP Id:
rs1402672103
gnomAD v2:
12-9268762-C-G
gnomAD v3:
12-9116166-C-G
gnomAD v4:
12-9116166-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9116166C>G , CM000674.2:g.9116166C>G | GRCh38 |
| NC_000012.11:g.9268762C>G , CM000674.1:g.9268762C>G | GRCh37 |
| NC_000012.10:g.9160029C>G | NCBI36 |
| NG_011717.1:g.4797G>C | |
| NG_011717.2:g.4797G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404455.2:c.-56G>C (A2M) | ENSP00000385710.2:n.-56G>C | |
| NM_000014.5:c.-317G>C (A2M) | NP_000005.2:n.-317G>C | |
| NM_001347423.1:c.-56G>C (A2M) | NP_001334352.1:n.-56G>C | |
| NM_001347424.1:c.-770G>C (A2M) | NP_001334353.1:n.-770G>C | |
| NM_001347425.1:c.-607G>C (A2M) | NP_001334354.1:n.-607G>C | |
| XM_017018683.1:c.*34-9208C>G (KLRG1) | XP_016874172.1:n.*34-9208C>G | |
| XM_017018684.1:c.*34-18920C>G (KLRG1) | XP_016874173.1:n.*34-18920C>G | |
| XM_017018685.1:c.*33+58000C>G (KLRG1) | XP_016874174.1:n.*33+58000C>G | |
| NM_001347423.2:c.-56G>C (A2M) | NP_001334352.2:n.-56G>C |