Linked Data
ClinVar Variation Id:
2264696
ClinVar RCV Id:
RCV004116513
dbSNP Id:
rs558034541
ExAC:
12:9232252 A / G
gnomAD v2:
12-9232252-A-G
gnomAD v3:
12-9079656-A-G
gnomAD v4:
12-9079656-A-G
COSMIC:
COSM5770183
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9079656A>G , CM000674.2:g.9079656A>G | GRCh38 |
| NC_000012.11:g.9232252A>G , CM000674.1:g.9232252A>G | GRCh37 |
| NC_000012.10:g.9123519A>G | NCBI36 |
| NG_011717.1:g.41307T>C | |
| NG_011717.2:g.41307T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318602.12:c.3014T>C (A2M) MANE Select | ENSP00000323929.8:p.Ile1005Thr | |
| ENST00000318602.11:c.3014T>C (A2M) | ENSP00000323929.7:p.Ile1005Thr | |
| ENST00000542567.1:n.369T>C (A2M) | ||
| ENST00000543436.2:n.451+10256T>C (A2M) | ||
| ENST00000545828.1:n.349-6935T>C (A2M) | ||
| NM_000014.4:c.3014T>C (A2M) | NP_000005.2:p.Ile1005Thr | |
| XM_006719056.2:c.3014T>C (A2M) | XP_006719119.1:p.Ile1005Thr | |
| NM_000014.5:c.3014T>C (A2M) | NP_000005.2:p.Ile1005Thr | |
| NM_001347423.1:c.3014T>C (A2M) | NP_001334352.1:p.Ile1005Thr | |
| NM_001347424.1:c.2714T>C (A2M) | NP_001334353.1:p.Ile905Thr | |
| NM_001347425.1:c.2564T>C (A2M) | NP_001334354.1:p.Ile855Thr | |
| XM_006719056.3:c.3014T>C (A2M) | XP_006719119.1:p.Ile1005Thr | |
| XM_017018683.1:c.*33+21490A>G (KLRG1) | XP_016874172.1:n.*33+21490A>G | |
| XM_017018684.1:c.*33+21490A>G (KLRG1) | XP_016874173.1:n.*33+21490A>G | |
| XM_017018685.1:c.*33+21490A>G (KLRG1) | XP_016874174.1:n.*33+21490A>G | |
| NM_000014.6:c.3014T>C (A2M) MANE Select | NP_000005.3:p.Ile1005Thr | |
| NM_001347423.2:c.3014T>C (A2M) | NP_001334352.2:p.Ile1005Thr | |
| NM_001347424.2:c.2714T>C (A2M) | NP_001334353.2:p.Ile905Thr | |
| NM_001347425.2:c.2564T>C (A2M) | NP_001334354.2:p.Ile855Thr |