Linked Data
dbSNP Id:
rs564083712
ExAC:
12:9268369 G / A
gnomAD v2:
12-9268369-G-A
gnomAD v4:
12-9115773-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9115773G>A , CM000674.2:g.9115773G>A | GRCh38 |
| NC_000012.11:g.9268369G>A , CM000674.1:g.9268369G>A | GRCh37 |
| NC_000012.10:g.9159636G>A | NCBI36 |
| NG_011717.1:g.5190C>T | |
| NG_011717.2:g.5190C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318602.12:c.77C>T (A2M) MANE Select | ENSP00000323929.8:p.Ser26Phe | |
| ENST00000318602.11:c.77C>T (A2M) | ENSP00000323929.7:p.Ser26Phe | |
| ENST00000404455.2:c.77C>T (A2M) | ENSP00000385710.2:p.Ser26Phe | |
| ENST00000467091.1:n.289C>T (A2M) | ||
| ENST00000497324.1:n.245C>T (A2M) | ||
| ENST00000539638.5:c.77C>T (A2M) | ENSP00000445717.1:p.Ser26Phe | |
| NM_000014.4:c.77C>T (A2M) | NP_000005.2:p.Ser26Phe | |
| XM_006719056.2:c.77C>T (A2M) | XP_006719119.1:p.Ser26Phe | |
| NM_000014.5:c.77C>T (A2M) | NP_000005.2:p.Ser26Phe | |
| NM_001347423.1:c.77C>T (A2M) | NP_001334352.1:p.Ser26Phe | |
| NM_001347424.1:c.-377C>T (A2M) | NP_001334353.1:n.-377C>T | |
| NM_001347425.1:c.-214C>T (A2M) | NP_001334354.1:n.-214C>T | |
| XM_006719056.3:c.77C>T (A2M) | XP_006719119.1:p.Ser26Phe | |
| XM_017018683.1:c.*34-9601G>A (KLRG1) | XP_016874172.1:n.*34-9601G>A | |
| XM_017018684.1:c.*34-19313G>A (KLRG1) | XP_016874173.1:n.*34-19313G>A | |
| XM_017018685.1:c.*33+57607G>A (KLRG1) | XP_016874174.1:n.*33+57607G>A | |
| NM_000014.6:c.77C>T (A2M) MANE Select | NP_000005.3:p.Ser26Phe | |
| NM_001347423.2:c.77C>T (A2M) | NP_001334352.2:p.Ser26Phe | |
| NM_001347424.2:c.-377C>T (A2M) | NP_001334353.2:n.-377C>T | |
| NM_001347425.2:c.-214C>T (A2M) | NP_001334354.2:n.-214C>T |