Linked Data
dbSNP Id:
rs921377538
gnomAD v2:
12-9268778-C-G
gnomAD v3:
12-9116182-C-G
gnomAD v4:
12-9116182-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9116182C>G , CM000674.2:g.9116182C>G | GRCh38 |
| NC_000012.11:g.9268778C>G , CM000674.1:g.9268778C>G | GRCh37 |
| NC_000012.10:g.9160045C>G | NCBI36 |
| NG_011717.1:g.4781G>C | |
| NG_011717.2:g.4781G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404455.2:c.-72G>C (A2M) | ENSP00000385710.2:n.-72G>C | |
| NM_000014.5:c.-333G>C (A2M) | NP_000005.2:n.-333G>C | |
| NM_001347423.1:c.-72G>C (A2M) | NP_001334352.1:n.-72G>C | |
| NM_001347424.1:c.-786G>C (A2M) | NP_001334353.1:n.-786G>C | |
| NM_001347425.1:c.-623G>C (A2M) | NP_001334354.1:n.-623G>C | |
| XM_017018683.1:c.*34-9192C>G (KLRG1) | XP_016874172.1:n.*34-9192C>G | |
| XM_017018684.1:c.*34-18904C>G (KLRG1) | XP_016874173.1:n.*34-18904C>G | |
| XM_017018685.1:c.*33+58016C>G (KLRG1) | XP_016874174.1:n.*33+58016C>G | |
| NM_001347423.2:c.-72G>C (A2M) | NP_001334352.2:n.-72G>C |