Linked Data
ClinVar Variation Id:
18174
ClinVar RCV Id:
RCV000019805
dbSNP Id:
rs1800434
gnomAD v2:
12-9247583-C-T
gnomAD v3:
12-9094987-C-T
gnomAD v4:
12-9094987-C-T
COSMIC:
COSM4168544
PubMed:
PMID:1374237
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9094987C>T , CM000674.2:g.9094987C>T | GRCh38 |
| NC_000012.11:g.9247583C>T , CM000674.1:g.9247583C>T | GRCh37 |
| NC_000012.10:g.9138850C>T | NCBI36 |
| NG_011717.1:g.25976G>A | |
| NG_011717.2:g.25976G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318602.12:c.2111G>A (A2M) MANE Select | ENSP00000323929.8:p.Arg704His | |
| ENST00000318602.11:c.2111G>A (A2M) | ENSP00000323929.7:p.Arg704His | |
| ENST00000545828.1:n.348+6563G>A (A2M) | ||
| ENST00000546069.1:c.430G>A (A2M) | ENSP00000438599.1:n.430G>A | |
| NM_000014.4:c.2111G>A (A2M) | NP_000005.2:p.Arg704His | |
| XM_006719056.2:c.2111G>A (A2M) | XP_006719119.1:p.Arg704His | |
| NM_000014.5:c.2111G>A (A2M) | NP_000005.2:p.Arg704His | |
| NM_001347423.1:c.2111G>A (A2M) | NP_001334352.1:p.Arg704His | |
| NM_001347424.1:c.1811G>A (A2M) | NP_001334353.1:p.Arg604His | |
| NM_001347425.1:c.1661G>A (A2M) | NP_001334354.1:p.Arg554His | |
| XM_006719056.3:c.2111G>A (A2M) | XP_006719119.1:p.Arg704His | |
| XM_017018683.1:c.*34-30387C>T (KLRG1) | XP_016874172.1:n.*34-30387C>T | |
| XM_017018684.1:c.*33+36821C>T (KLRG1) | XP_016874173.1:n.*33+36821C>T | |
| XM_017018685.1:c.*33+36821C>T (KLRG1) | XP_016874174.1:n.*33+36821C>T | |
| NM_000014.6:c.2111G>A (A2M) MANE Select | NP_000005.3:p.Arg704His | |
| NM_001347423.2:c.2111G>A (A2M) | NP_001334352.2:p.Arg704His | |
| NM_001347424.2:c.1811G>A (A2M) | NP_001334353.2:p.Arg604His | |
| NM_001347425.2:c.1661G>A (A2M) | NP_001334354.2:p.Arg554His |