Linked Data
dbSNP Id:
rs1423176057
gnomAD v2:
12-9242378-C-G
gnomAD v3:
12-9089782-C-G
gnomAD v4:
12-9089782-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9089782C>G , CM000674.2:g.9089782C>G | GRCh38 |
| NC_000012.11:g.9242378C>G , CM000674.1:g.9242378C>G | GRCh37 |
| NC_000012.10:g.9133645C>G | NCBI36 |
| NG_011717.1:g.31181G>C | |
| NG_011717.2:g.31181G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318602.12:c.2718+120G>C (A2M) MANE Select | ENSP00000323929.8:n.2718+120G>C | |
| ENST00000318602.11:c.2718+120G>C (A2M) | ENSP00000323929.7:n.2718+120G>C | |
| ENST00000462568.1:n.297+120G>C (A2M) | ||
| ENST00000543436.2:n.451+130G>C (A2M) | ||
| ENST00000545828.1:n.348+11768G>C (A2M) | ||
| NM_000014.4:c.2718+120G>C (A2M) | NP_000005.2:n.2718+120G>C | |
| XM_006719056.2:c.2718+120G>C (A2M) | XP_006719119.1:n.2718+120G>C | |
| NM_000014.5:c.2718+120G>C (A2M) | NP_000005.2:n.2718+120G>C | |
| NM_001347423.1:c.2718+120G>C (A2M) | NP_001334352.1:n.2718+120G>C | |
| NM_001347424.1:c.2418+120G>C (A2M) | NP_001334353.1:n.2418+120G>C | |
| NM_001347425.1:c.2268+120G>C (A2M) | NP_001334354.1:n.2268+120G>C | |
| XM_006719056.3:c.2718+120G>C (A2M) | XP_006719119.1:n.2718+120G>C | |
| XM_017018683.1:c.*33+31616C>G (KLRG1) | XP_016874172.1:n.*33+31616C>G | |
| XM_017018684.1:c.*33+31616C>G (KLRG1) | XP_016874173.1:n.*33+31616C>G | |
| XM_017018685.1:c.*33+31616C>G (KLRG1) | XP_016874174.1:n.*33+31616C>G | |
| NM_000014.6:c.2718+120G>C (A2M) MANE Select | NP_000005.3:n.2718+120G>C | |
| NM_001347423.2:c.2718+120G>C (A2M) | NP_001334352.2:n.2718+120G>C | |
| NM_001347424.2:c.2418+120G>C (A2M) | NP_001334353.2:n.2418+120G>C | |
| NM_001347425.2:c.2268+120G>C (A2M) | NP_001334354.2:n.2268+120G>C |