Linked Data
dbSNP Id:
rs965842592
gnomAD v2:
12-9221388-T-C
gnomAD v3:
12-9068792-T-C
gnomAD v4:
12-9068792-T-C
COSMIC:
COSM2045015
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9068792T>C , CM000674.2:g.9068792T>C | GRCh38 |
| NC_000012.11:g.9221388T>C , CM000674.1:g.9221388T>C | GRCh37 |
| NC_000012.10:g.9112655T>C | NCBI36 |
| NG_011717.1:g.52171A>G | |
| NG_011717.2:g.52171A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318602.12:c.4314A>G (A2M) MANE Select | ENSP00000323929.8:p.Pro1438= | |
| ENST00000318602.11:c.4314A>G (A2M) | ENSP00000323929.7:p.Pro1438= | |
| ENST00000495442.1:n.164A>G (A2M) | ||
| ENST00000495709.1:n.287A>G (A2M) | ||
| ENST00000543436.2:n.452-980A>G (A2M) | ||
| NM_000014.4:c.4314A>G (A2M) | NP_000005.2:p.Pro1438= | |
| XM_006719056.2:c.4314A>G (A2M) | XP_006719119.1:p.Pro1438= | |
| NM_000014.5:c.4314A>G (A2M) | NP_000005.2:p.Pro1438= | |
| NM_001347423.1:c.4314A>G (A2M) | NP_001334352.1:p.Pro1438= | |
| NM_001347424.1:c.4014A>G (A2M) | NP_001334353.1:p.Pro1338= | |
| NM_001347425.1:c.3864A>G (A2M) | NP_001334354.1:p.Pro1288= | |
| XM_006719056.3:c.4314A>G (A2M) | XP_006719119.1:p.Pro1438= | |
| XM_017018683.1:c.*33+10626T>C (KLRG1) | XP_016874172.1:n.*33+10626T>C | |
| XM_017018684.1:c.*33+10626T>C (KLRG1) | XP_016874173.1:n.*33+10626T>C | |
| XM_017018685.1:c.*33+10626T>C (KLRG1) | XP_016874174.1:n.*33+10626T>C | |
| NM_000014.6:c.4314A>G (A2M) MANE Select | NP_000005.3:p.Pro1438= | |
| NM_001347423.2:c.4314A>G (A2M) | NP_001334352.2:p.Pro1438= | |
| NM_001347424.2:c.4014A>G (A2M) | NP_001334353.2:p.Pro1338= | |
| NM_001347425.2:c.3864A>G (A2M) | NP_001334354.2:p.Pro1288= |